Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut CDH26 60437 broad.mit.edu 37 20 58567484 58567484 + Silent SNP C C T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr20:58567484C>T ENST00000348616.4 + 10 1635 c.1335C>T c.(1333-1335)tcC>tcT p.S445S CDH26_ENST00000244047.5_Silent_p.S445S NM_177980.2 NP_817089.1 Q8IXH8 CAD26_HUMAN cadherin 26 445 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.S445S(1) breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 44 all_lung(29;0.00963) BRCA - Breast invasive adenocarcinoma(7;5.58e-09) ACAAAAACTCCGGAGTGGTCA 0.398000 16 21 0 0 0.006122 0 0 PSMD1 5707 broad.mit.edu 37 2 232035369 232035369 + Silent SNP C C T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr2:232035369C>T ENST00000308696.6 + 24 2967 c.2805C>T c.(2803-2805)atC>atT p.I935I PSMD1_ENST00000373635.4_Silent_p.I904I|PSMD1_ENST00000409643.1_Silent_p.I904I NM_002807.3 NP_002798.2 Q99460 PSMD1_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 1 935 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle enzyme regulator activity|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4) 31 Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168) Bortezomib(DB00188) GCCCAAAAATCGAGGAGGAGG 0.473000 26 34 0 0 0.021523 0 0 ATP13A5 344905 broad.mit.edu 37 3 192992869 192992869 + Missense_Mutation SNP C C T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr3:192992869C>T ENST00000342358.4 - 30 3736 c.3619G>A c.(3619-3621)Ggc>Agc p.G1207S ATP13A5_ENST00000495496.1_5'UTR NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 1207 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) GTGGGTTGGCCTCCCAATTTG 0.418000 68 75 0 0 0.014410 0 0 TCN2 6948 broad.mit.edu 37 22 31010335 31010335 + Splice_Site SNP G G A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr22:31010335G>A ENST00000215838.3 + 4 921 c.e4-1 TCN2_ENST00000407817.3_Splice_Site|TCN2_ENST00000405742.3_Splice_Site P20062 TCO2_HUMAN transcobalamin II cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular space cobalamin binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1) 22 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TTCCCTCTCAGGGCATGATCA 0.612000 15 17 0 0 0.003163 0 0 SLC2A8 29988 broad.mit.edu 37 9 130167745 130167745 + Silent SNP G G A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr9:130167745G>A ENST00000373371.3 + 9 1286 c.1197G>A c.(1195-1197)gaG>gaA p.E399E SLC2A8_ENST00000373360.3_Intron|SLC2A8_ENST00000373352.1_Silent_p.E136E NM_001271712.1|NM_014580.3 NP_001258641.1|NP_055395.2 Q9NY64 GTR8_HUMAN solute carrier family 2 (facilitated glucose transporter), member 8 399 cytoplasmic vesicle membrane|integral to plasma membrane D-glucose transmembrane transporter activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1) 11 TCATGTCAGAGATCTTCCCTC 0.627000 19 31 0 0 0.010504 0 0 PTPRT 11122 broad.mit.edu 37 20 41420038 41420038 + Missense_Mutation SNP G G T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr20:41420038G>T ENST00000373198.3 - 3 518 c.283C>A c.(283-285)Ctg>Atg p.L95M PTPRT_ENST00000373190.1_Missense_Mutation_p.L95M|PTPRT_ENST00000356100.2_Missense_Mutation_p.L95M|PTPRT_ENST00000373193.3_Missense_Mutation_p.L95M|PTPRT_ENST00000373184.1_Missense_Mutation_p.L95M|PTPRT_ENST00000373201.1_Missense_Mutation_p.L95M|PTPRT_ENST00000373187.1_Missense_Mutation_p.L95M NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 95 MAM. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) TTCTCCTTCAGGGTTGGCAGG 0.557000 6 29 3.59834e-05 8.08717e-05 0.001168 1 0 C12orf5 57103 broad.mit.edu 37 12 4430444 4430444 + Missense_Mutation SNP C C T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr12:4430444C>T ENST00000179259.4 + 1 74 c.7C>T c.(7-9)Cgc>Tgc p.R3C NM_020375.2 NP_065108.1 Q9NQ88 TIGAR_HUMAN chromosome 12 open reading frame 5 3 intracellular fructose-2,6-bisphosphate 2-phosphatase activity endometrium(1)|large_intestine(1)|lung(5)|skin(3) 10 all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206) GAACATGGCTCGCTTCGCTCT 0.657000 42 35 0 0 0.014410 0 0 C1orf61 10485 broad.mit.edu 37 1 156386582 156386582 + Missense_Mutation SNP A A T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr1:156386582A>T ENST00000368243.1 - 3 166 c.50T>A c.(49-51)cTt>cAt p.L17H C1orf61_ENST00000476966.1_Intron NM_006365.1 NP_006356.1 Q13536 CROC4_HUMAN chromosome 1 open reading frame 61 17 nucleus large_intestine(2)|lung(2)|skin(1) 5 Hepatocellular(266;0.158) AAGCTGGAAAAGGAGGAAGTT 0.463000 61 82 0 0 0.014410 0 0 ZNF714 148206 broad.mit.edu 37 19 21300715 21300715 + Missense_Mutation SNP G G C TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr19:21300715G>C ENST00000596143.1 + 5 1570 c.1245G>C c.(1243-1245)aaG>aaC p.K415N ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000291770.7_3'UTR NM_182515.3 NP_872321.2 Q96N38 ZN714_HUMAN zinc finger protein 714 416 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|urinary_tract(2) 18 CCAAACATAAGATAATTCATA 0.348000 22 13 0 0 0.012319 0 0 CYP8B1 1582 broad.mit.edu 37 3 42917193 42917193 + Missense_Mutation SNP G G A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr3:42917193G>A ENST00000316161.4 - 1 440 c.116C>T c.(115-117)aCc>aTc p.T39I KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Missense_Mutation_p.T39I|ACKR2_ENST00000471537.1_Intron NM_004391.2 NP_004382.2 Q9UNU6 CP8B1_HUMAN cytochrome P450, family 8, subfamily B, polypeptide 1 39 bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome 7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5) 23 KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249) CCAGGGCACGGTACCCTTGTC 0.577000 36 33 0 0 0.006230 0 0 HEATR2 54919 broad.mit.edu 37 7 803575 803575 + Missense_Mutation SNP G G A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr7:803575G>A ENST00000297440.6 + 8 1767 c.1747G>A c.(1747-1749)Gag>Aag p.E583K HEATR2_ENST00000313147.5_Missense_Mutation_p.E583K NM_017802.3 NP_060272.3 Q86Y56 HEAT2_HUMAN HEAT repeat containing 2 583 protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1) 22 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14) ACACTCGCCGGAGCTCCTGCA 0.667000 45 66 0 0 0.013114 0 0 GRM7 2917 broad.mit.edu 37 3 7456736 7456736 + Missense_Mutation SNP A A G TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr3:7456736A>G ENST00000486284.1 + 5 1334 c.1060A>G c.(1060-1062)Aca>Gca p.T354A GRM7_ENST00000402647.2_Missense_Mutation_p.T354A|GRM7_ENST00000403881.1_Missense_Mutation_p.T354A|GRM7_ENST00000389336.4_Missense_Mutation_p.T354A|GRM7_ENST00000357716.4_Missense_Mutation_p.T354A NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 354 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) TACGTCCCGTACACTTGAAAA 0.398000 3 36 0 0 0.004672 0 0 TRPM6 140803 broad.mit.edu 37 9 77416982 77416982 + Missense_Mutation SNP C C A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr9:77416982C>A ENST00000451710.3 - 16 2078 c.1841G>T c.(1840-1842)tGg>tTg p.W614L TRPM6_ENST00000360774.1_Missense_Mutation_p.W614L|TRPM6_ENST00000376864.4_Missense_Mutation_p.W614L|TRPM6_ENST00000449912.2_Missense_Mutation_p.W609L|TRPM6_ENST00000361255.3_Missense_Mutation_p.W609L|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376871.3_Intron Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 614 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 CAGCACAGCCCAAACCAGCAG 0.463000 14 24 3.27435e-08 7.43412e-08 0.020292 1 0 KIF3B 9371 broad.mit.edu 37 20 30918011 30918011 + Missense_Mutation SNP C C T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr20:30918011C>T ENST00000375712.3 + 8 2203 c.2036C>T c.(2035-2037)gCc>gTc p.A679V KIF3B_ENST00000418717.2_Missense_Mutation_p.A305V NM_004798.3 NP_004789.1 O15066 KIF3B_HUMAN kinesin family member 3B 679 Globular. anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) GAGGGTCCAGCCATTGCCCCC 0.517000 18 23 0 0 0.004990 0 0 DCHS1 8642 broad.mit.edu 37 11 6648741 6648741 + Silent SNP C C T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr11:6648741C>T ENST00000299441.3 - 14 5940 c.5529G>A c.(5527-5529)gtG>gtA p.V1843V NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 1843 Cadherin 17. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCAGCACTGTCACTGTCAAAA 0.617000 8 11 0 0 0.004482 0 0 SLC19A2 10560 broad.mit.edu 37 1 169435090 169435090 + Silent SNP T T C TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr1:169435090T>C ENST00000236137.5 - 6 1727 c.1491A>G c.(1489-1491)tcA>tcG p.S497S SLC19A2_ENST00000367802.3_Silent_p.S459S|SLC19A2_ENST00000367804.3_Silent_p.S296S NM_006996.2 NP_008927.1 O60779 S19A2_HUMAN solute carrier family 19 (thiamine transporter), member 2 497 thiamine-containing compound metabolic process integral to membrane|plasma membrane folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1) 11 all_hematologic(923;0.208) CAGTATATTATGAAGTGGTTA 0.403000 4 86 0 0 0.014758 0 0 GLI2 2736 broad.mit.edu 37 2 121726377 121726377 + Missense_Mutation SNP A A G TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr2:121726377A>G ENST00000452319.1 + 6 791 c.731A>G c.(730-732)gAc>gGc p.D244G GLI2_ENST00000361492.4_Missense_Mutation_p.D244G|GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000435313.2_3'UTR P10070 GLI2_HUMAN GLI family zinc finger 2 244 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) GCCAGCCTGGACCTGCAGCGG 0.652000 10 76 0 0 0.013537 0 0 FAM13C 220965 broad.mit.edu 37 10 61011251 61011251 + Missense_Mutation SNP C C T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr10:61011251C>T ENST00000435852.2 - 13 1765 c.1718G>A c.(1717-1719)cGg>cAg p.R573Q FAM13C_ENST00000468840.2_Intron|FAM13C_ENST00000419214.2_Intron|FAM13C_ENST00000277705.6_Intron|FAM13C_ENST00000373867.3_Intron|FAM13C_ENST00000373868.2_Intron|FAM13C_ENST00000442566.3_Intron Q8NE31 FA13C_HUMAN family with sequence similarity 13, member C 0 NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 AAAAAGTCACCGTTCCTGCAA 0.358000 37 3 0 0 0.015359 0 0 FCRL3 115352 broad.mit.edu 37 1 157660321 157660321 + Missense_Mutation SNP G G A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr1:157660321G>A ENST00000368184.3 - 9 1705 c.1414C>T c.(1414-1416)Ccg>Tcg p.P472S FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Missense_Mutation_p.P472S NM_052939.3 NP_443171.2 Q96P31 FCRL3_HUMAN Fc receptor-like 3 472 integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2) 69 all_hematologic(112;0.0378) CGAGACACCGGAACTGAGGGA 0.537000 30 36 0 0 0.009535 0 0 TRIOBP 11078 broad.mit.edu 37 22 38130518 38130518 + Missense_Mutation SNP C C T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr22:38130518C>T ENST00000406386.3 + 9 4430 c.4175C>T c.(4174-4176)tCc>tTc p.S1392F RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 1392 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) CTCCAGGGGTCCCCGCTGCCC 0.657000 8 19 0 0 0.004482 0 0 C1orf168 199920 broad.mit.edu 37 1 57189292 57189292 + Missense_Mutation SNP C C G TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr1:57189292C>G ENST00000343433.6 - 17 2023 c.1943G>C c.(1942-1944)aGa>aCa p.R648T NM_001004303.4 NP_001004303.3 Q5VWT5 CA168_HUMAN chromosome 1 open reading frame 168 648 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 TTTTTCTTCTCTTTTCATTCT 0.308000 13 11 0 0 0.013537 0 0 SLC15A2 6565 broad.mit.edu 37 3 121613329 121613329 + Missense_Mutation SNP T T A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr3:121613329T>A ENST00000489711.1 + 1 394 c.6T>A c.(4-6)aaT>aaA p.N2K SLC15A2_ENST00000295605.2_Missense_Mutation_p.N2K NM_021082.3 NP_066568.3 Q16348 S15A2_HUMAN solute carrier family 15 (oligopeptide transporter), member 2 2 protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) CAGCCATGAATCCTTTCCAGA 0.498000 8 125 0 0 0.003080 0 0 SNTB2 6645 broad.mit.edu 37 16 69294068 69294068 + Missense_Mutation SNP C C T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr16:69294068C>T ENST00000336278.4 + 3 948 c.910C>T c.(910-912)Cca>Tca p.P304S SNTB2_ENST00000528525.1_Intron NM_006750.3 NP_006741.1 Q13425 SNTB2_HUMAN syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2) 304 cell junction|dystrophin-associated glycoprotein complex|membrane fraction|microtubule|transport vesicle membrane actin binding|calmodulin binding|protein binding endometrium(1)|kidney(2)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 13 Ovarian(137;0.101) OV - Ovarian serous cystadenocarcinoma(108;0.208) GGCTCTCCTCCCACAGGTGTT 0.527000 40 56 0 0 0.006230 0 0 PMFBP1 83449 broad.mit.edu 37 16 72173222 72173222 + Missense_Mutation SNP G G A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr16:72173222G>A ENST00000537465.1 - 7 1042 c.884C>T c.(883-885)cCt>cTt p.P295L PMFBP1_ENST00000237353.10_Missense_Mutation_p.P295L|PMFBP1_ENST00000355636.6_Missense_Mutation_p.P150L Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 295 NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) TGAGGAGCTAGGAGGGTATCT 0.468000 32 38 0 0 0.019004 0 0 ACTR3C 653857 broad.mit.edu 37 7 149990406 149990406 + Missense_Mutation SNP G G A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr7:149990406G>A ENST00000539352.1 - 3 399 c.148C>T c.(148-150)Cca>Tca p.P50S ACTR3C_ENST00000252071.4_Missense_Mutation_p.P50S NM_001164458.1 NP_001157930.1 Q9C0K3 ARP3C_HUMAN ARP3 actin-related protein 3 homolog C (yeast) 50 regulation of actin filament polymerization cytoskeleton actin binding|ATP binding CTTACCACTGGGATAACATGG 0.423000 5 7 0 0 0.003080 0 0 CDHR4 389118 broad.mit.edu 37 3 49836822 49836822 + Missense_Mutation SNP G G A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr3:49836822G>A ENST00000412678.2 - 2 106 c.98C>T c.(97-99)cCt>cTt p.P33L CDHR4_ENST00000487256.1_Missense_Mutation_p.P33L|CDHR4_ENST00000343366.4_Missense_Mutation_p.P33L NM_001007540.2 NP_001007541.2 A6H8M9 CDHR4_HUMAN cadherin-related family member 4 33 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(3) 11 GACTGTGCCAGGGCCCTGGCT 0.557000 11 9 0 0 0.010729 0 0 RNF17 56163 broad.mit.edu 37 13 25453355 25453355 + Missense_Mutation SNP T T C TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr13:25453355T>C ENST00000255324.5 + 35 4856 c.4804T>C c.(4804-4806)Tat>Cat p.Y1602H RNF17_ENST00000381921.1_Missense_Mutation_p.Y1560H|RNF17_ENST00000339524.3_Missense_Mutation_p.Y612H NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 1602 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) AGTGACATTATATGACGATGA 0.393000 3 22 0 0 0.004672 0 0 PTEN 5728 broad.mit.edu 37 10 89711916 89711916 + Nonsense_Mutation SNP T T A rs104894184 TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr10:89711916T>A ENST00000371953.3 + 6 1891 c.534T>A c.(532-534)taT>taA p.Y178* NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 178 Phosphatase tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.Y178*(1)|p.Y177fs*1(1)|p.G165_*404del(1)|p.V175fs*3(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TGTATTATTATAGCTACCTGT 0.368000 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 6 57 0 0 0.001168 0 0 HIVEP3 59269 broad.mit.edu 37 1 42049071 42049071 + Silent SNP C C T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr1:42049071C>T ENST00000372584.1 - 3 2412 c.1398G>A c.(1396-1398)acG>acA p.T466T HIVEP3_ENST00000372583.1_Silent_p.T466T|HIVEP3_ENST00000429157.2_Silent_p.T466T|HIVEP3_ENST00000247584.5_Silent_p.T466T NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 466 No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) TGATGAGCTTCGTGATGTGCT 0.637000 29 37 0 0 0.008361 0 0 PI4KA 5297 broad.mit.edu 37 22 21174134 21174134 + Missense_Mutation SNP C C G TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr22:21174134C>G ENST00000255882.6 - 6 670 c.584G>C c.(583-585)gGg>gCg p.G195A PI4KA_ENST00000572273.1_Missense_Mutation_p.G137A NM_058004.3 NP_477352.3 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha 137 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) GCTGTAACGCCCAAATGCTCG 0.448000 61 97 0 0 0.014410 0 0 NRAS 4893 broad.mit.edu 37 1 115256530 115256530 + Missense_Mutation SNP G G T rs121913254 TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr1:115256530G>T ENST00000369535.4 - 3 434 c.181C>A c.(181-183)Caa>Aaa p.Q61K NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TACTCTTCTTGTCCAGCTGTA 0.458000 Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 57 77 2.40265e-35 5.5978e-35 0.014410 1 0 NRXN3 9369 broad.mit.edu 37 14 79181157 79181157 + Silent SNP C C T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr14:79181157C>T ENST00000554719.1 + 5 1091 c.600C>T c.(598-600)atC>atT p.I200I NRXN3_ENST00000335750.5_Silent_p.I200I NM_004796.4 NP_004787.2 Q9HDB5 NRX3B_HUMAN neurexin 3 206 Laminin G-like. angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) AGAGCGAGATCCTGGACCTGG 0.587000 64 68 0 0 0.014410 0 0 AKR1D1 6718 broad.mit.edu 37 7 137773460 137773460 + Silent SNP G G A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr7:137773460G>A ENST00000242375.3 + 2 249 c.207G>A c.(205-207)agG>agA p.R69R AKR1D1_ENST00000411726.2_Silent_p.R69R|AKR1D1_ENST00000432161.1_Silent_p.R69R|AKR1D1_ENST00000468877.2_Intron NM_005989.3 NP_005980.1 P51857 AK1D1_HUMAN aldo-keto reductase family 1, member D1 69 androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion cytosol aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 23 AGGCCATCAGGGAGAAGATAG 0.502000 12 12 0 0 0.010729 0 0 KIF13B 23303 broad.mit.edu 37 8 29033614 29033614 + Missense_Mutation SNP G G A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr8:29033614G>A ENST00000524189.1 - 10 954 c.916C>T c.(916-918)Cgt>Tgt p.R306C KIF13B_ENST00000521515.1_Missense_Mutation_p.R306C NM_015254.3 NP_056069.2 Q9NQT8 KI13B_HUMAN kinesin family member 13B 306 microtubule-based movement|protein targeting|signal transduction|T cell activation cytoplasm|microtubule ATP binding|microtubule motor activity|protein kinase binding endometrium(6)|kidney(1)|lung(20)|urinary_tract(1) 28 Ovarian(32;0.000536) KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181) ACTGAGTCACGATATGGAACA 0.433000 12 2 0 0 0.010729 0 0 TMEM176B 28959 broad.mit.edu 37 7 150490296 150490296 + Silent SNP G G A rs148000953 TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr7:150490296G>A ENST00000447204.2 - 5 852 c.480C>T c.(478-480)atC>atT p.I160I TMEM176B_ENST00000429904.2_Silent_p.I160I|TMEM176B_ENST00000326442.5_Silent_p.I160I|TMEM176B_ENST00000492607.1_Silent_p.I160I|TMEM176B_ENST00000450753.2_Silent_p.I123I|TMEM176B_ENST00000434545.1_Silent_p.I160I NM_014020.3 NP_054739.3 Q3YBM2 T176B_HUMAN transmembrane protein 176B 160 cell differentiation|organ morphogenesis integral to membrane|nuclear membrane cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3) 19 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) ACACAGTGTCGATGTATAAAA 0.517000 35 50 0 0 0.017118 0 0 MKL1 57591 broad.mit.edu 37 22 40820310 40820310 + Missense_Mutation SNP T T C TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr22:40820310T>C ENST00000396617.3 - 8 967 c.377A>G c.(376-378)gAg>gGg p.E126G MKL1_ENST00000402042.1_Missense_Mutation_p.E126G|MKL1_ENST00000407029.1_Missense_Mutation_p.E126G|MKL1_ENST00000355630.3_Missense_Mutation_p.E126G Q969V6 MKL1_HUMAN megakaryoblastic leukemia (translocation) 1 126 Mediates interaction with SCAI and ACTB (By similarity). positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent cytoplasm|nucleus actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 30 GGCAGGCTGCTCGGGGGATAA 0.602000 T RBM15 acute megakaryocytic leukemia 4 74 0 0 0.014758 0 0 CFAP221 200373 broad.mit.edu 37 2 120388367 120388367 + Missense_Mutation SNP C C T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr2:120388367C>T ENST00000602047.1 + 20 2118 c.1006C>T c.(1006-1008)Ctt>Ttt p.L336F PCDP1_ENST00000413369.3_Missense_Mutation_p.L622F Q4G0U5 PCDP1_HUMAN 622 cilium calmodulin binding Colorectal(110;0.196) CATCACAGCCCTTCCGAAACA 0.468000 49 46 0 0 0.014410 0 0 OR51T1 401665 broad.mit.edu 37 11 4904098 4904098 + Silent SNP G G A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr11:4904098G>A ENST00000380378.1 + 1 1050 c.1050G>A c.(1048-1050)agG>agA p.R350R MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000322049.1_Silent_p.R323R|MMP26_ENST00000380390.1_Intron NM_001004759.1 NP_001004759.1 Q8NGJ9 O51T1_HUMAN olfactory receptor, family 51, subfamily T, member 1 323 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) GGGGTCTTAGGGGAAGATGGG 0.468000 18 31 0 0 0.006122 0 0 SLAMF8 56833 broad.mit.edu 37 1 159804974 159804974 + Splice_Site SNP G G A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr1:159804974G>A ENST00000289707.5 + 5 931 c.781_splice c.e5-1 p.G261_splice C1orf204_ENST00000368102.1_3'UTR|SLAMF8_ENST00000368104.4_Splice_Site_p.G152_splice|SLAMF8_ENST00000471286.1_Intron NM_020125.2 NP_064510.1 Q9P0V8 SLAF8_HUMAN SLAM family member 8 261 integral to membrane endometrium(2)|large_intestine(4)|lung(6) 12 all_hematologic(112;0.0597) TCCTTACCAGGGAAAAAGAAA 0.498000 18 33 0 0 0.007413 0 0 SERPINA13P 388007 broad.mit.edu 37 14 95111300 95111300 + RNA SNP C C T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr14:95111300C>T ENST00000469935.1 + 0 1120 NR_015340.1 GCAGAGAACTCGATTTCCACT 0.557000 13 4 0 0 0.003163 0 0 USP37 57695 broad.mit.edu 37 2 219394755 219394755 + Missense_Mutation SNP G G A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr2:219394755G>A ENST00000258399.3 - 10 1199 c.787C>T c.(787-789)Cct>Tct p.P263S USP37_ENST00000454775.1_Missense_Mutation_p.P263S|USP37_ENST00000418019.1_Missense_Mutation_p.P263S|USP37_ENST00000415516.1_Missense_Mutation_p.P191S|USP37_ENST00000338465.5_Missense_Mutation_p.P263S NM_020935.2 NP_065986.2 Q86T82 UBP37_HUMAN ubiquitin specific peptidase 37 263 ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1) 35 Renal(207;0.0915) Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487) GACTGTAAAGGTAAAAGCCCT 0.328000 24 26 0 0 0.007291 0 0 SSX9 280660 broad.mit.edu 37 X 48159108 48159108 + Missense_Mutation SNP G G T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chrX:48159108G>T ENST00000376909.1 - 6 487 c.425C>A c.(424-426)cCg>cAg p.P142Q SSX9_ENST00000407081.2_Missense_Mutation_p.P142Q breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1) 8 TGGTTTTCCCGGGGGGCACAG 0.488000 130 6 1.28113e-61 3.00053e-61 0.014410 1 0 FSIP2 401024 broad.mit.edu 37 2 186672961 186672961 + Missense_Mutation SNP G G A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr2:186672961G>A ENST00000343098.5 + 17 19195 c.19195G>A c.(19195-19197)Gaa>Aaa p.E6399K FSIP2_ENST00000424728.1_Missense_Mutation_p.E6310K NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 ATCAAATTCAGAATTAGTTCT 0.318000 23 37 0 0 0.012319 0 0 ASTN1 460 broad.mit.edu 37 1 176915229 176915229 + Silent SNP C C T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr1:176915229C>T ENST00000367654.2 - 13 2119 c.2106G>A c.(2104-2106)gtG>gtA p.V702V ASTN1_ENST00000367657.3_Silent_p.V694V|ASTN1_ENST00000424564.2_Silent_p.V694V|ASTN1_ENST00000361833.2_Silent_p.V694V|ASTN1_ENST00000281881.3_5'UTR O14525 ASTN1_HUMAN astrotactin 1 702 EGF-like 3. cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 AGCGTCCATCCACACCAAGCT 0.517000 38 10 0 0 0.008740 0 0 BANK1 55024 broad.mit.edu 37 4 102750985 102750985 + Missense_Mutation SNP A A T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr4:102750985A>T ENST00000504592.1 + 6 464 c.46A>T c.(46-48)Atg>Ttg p.M16L BANK1_ENST00000428908.1_Intron|BANK1_ENST00000322953.4_Missense_Mutation_p.M31L|BANK1_ENST00000444316.2_Start_Codon_SNP_p.M1L|BANK1_ENST00000508653.1_Intron Q8NDB2 BANK1_HUMAN B-cell scaffold protein with ankyrin repeats 1 31 Interaction with ITPR2. B cell activation NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1) 44 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.7e-07) AGATATAATAATGATATATGA 0.294000 10 14 0 0 0.008291 0 0 TTN 7273 broad.mit.edu 37 2 179437711 179437711 + Missense_Mutation SNP G G A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr2:179437711G>A ENST00000589042.1 - 326 73372 c.73148C>T c.(73147-73149)tCg>tTg p.S24383L TTN_ENST00000359218.5_Missense_Mutation_p.S15443L|TTN_ENST00000342992.6_Missense_Mutation_p.S21815L|TTN_ENST00000342175.6_Missense_Mutation_p.S15510L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S15318L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S22742L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 22742 Fibronectin type-III 77. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.S15443*(1)|p.S15318*(1)|p.S21813*(1)|p.S15510*(1)|p.S21815*(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GATAGTATACGAAGTTGCCTT 0.483000 14 13 0 0 0.020292 0 0 SUGP1 57794 broad.mit.edu 37 19 19427294 19427294 + Missense_Mutation SNP G G A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr19:19427294G>A ENST00000247001.5 - 2 490 c.143C>T c.(142-144)gCc>gTc p.A48V SUGP1_ENST00000585763.1_5'UTR|SUGP1_ENST00000334782.5_Missense_Mutation_p.A48V NM_172231.3 NP_757386.2 Q8IWZ8 SUGP1_HUMAN SURP and G patch domain containing 1 48 nuclear mRNA splicing, via spliceosome nucleoplasm|spliceosomal complex RNA binding NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 22 TTCCATTTTGGCTTCAATTTC 0.537000 29 42 0 0 0.009535 0 0 SDK2 54549 broad.mit.edu 37 17 71348681 71348681 + Missense_Mutation SNP C C T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr17:71348681C>T ENST00000392650.3 - 41 5689 c.5689G>A c.(5689-5691)Gac>Aac p.D1897N SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Missense_Mutation_p.D1878N NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 1897 Fibronectin type-III 13. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 ACCCGGAAGTCATAGCTCACG 0.612000 33 12 0 0 0.015359 0 0 XIRP2 129446 broad.mit.edu 37 2 167760325 167760325 + Silent SNP C C T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr2:167760325C>T ENST00000409195.1 + 2 422 c.333C>T c.(331-333)tcC>tcT p.S111S XIRP2_ENST00000409756.2_Silent_p.S111S|XIRP2_ENST00000420519.1_Silent_p.S111S|XIRP2_ENST00000409728.1_Silent_p.S111S|XIRP2_ENST00000409043.1_Silent_p.S111S|XIRP2_ENST00000295237.9_Silent_p.S111S NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 0 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AACGCTTTTCCATTGCCCTTG 0.502000 46 37 0 0 0.014410 0 0 PCDHA4 56144 broad.mit.edu 37 5 140189147 140189147 + Missense_Mutation SNP C C T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr5:140189147C>T ENST00000530339.1 + 1 2375 c.2375C>T c.(2374-2376)tCc>tTc p.S792F PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.S792F|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.S792F|PCDHA3_ENST00000522353.2_Intron NM_018907.2 NP_061730.1 breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACTGAGGAATCCTTTGCAAAG 0.423000 39 8 0 0 0.010771 0 0 TTN 7273 broad.mit.edu 37 2 179628974 179628974 + Silent SNP G G A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr2:179628974G>A ENST00000589042.1 - 43 10268 c.10044C>T c.(10042-10044)atC>atT p.I3348I TTN_ENST00000359218.5_Silent_p.I3302I|TTN_ENST00000342992.6_Silent_p.I3348I|TTN_ENST00000342175.6_Silent_p.I3302I|TTN_ENST00000360870.5_Silent_p.I3348I|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.I3302I|TTN_ENST00000591111.1_Silent_p.I3348I NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3063 Ig-like 20. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GAAGCGGGGTGATGATGGCAG 0.463000 37 30 0 0 0.017118 0 0 MFGE8 4240 broad.mit.edu 37 15 89449881 89449881 + Silent SNP G G A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr15:89449881G>A ENST00000539437.1 - 5 628 c.492C>T c.(490-492)atC>atT p.I164I MFGE8_ENST00000268150.8_Silent_p.I172I|MFGE8_ENST00000542878.1_Silent_p.I128I|MFGE8_ENST00000566497.1_Silent_p.I172I|MFGE8_ENST00000559997.1_Intron|MFGE8_ENST00000268151.7_Silent_p.I172I Q08431 MFGM_HUMAN milk fat globule-EGF factor 8 protein 172 F5/8 type C 1. angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 22 Lung NSC(78;0.0392)|all_lung(78;0.077) TAACATCATGGATGAAATCGA 0.522000 45 56 0 0 0.014410 0 0 KIAA1467 57613 broad.mit.edu 37 12 13220169 13220169 + Missense_Mutation SNP G G A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr12:13220169G>A ENST00000197268.8 + 7 1201 c.1081G>A c.(1081-1083)Gaa>Aaa p.E361K NM_020853.1 NP_065904.1 A2RU67 K1467_HUMAN KIAA1467 361 integral to membrane NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4) 36 Prostate(47;0.184) BRCA - Breast invasive adenocarcinoma(232;0.157) TCTGCAGATAGAAGAGCCAGA 0.483000 40 61 0 0 0.006230 0 0 TICAM1 148022 broad.mit.edu 37 19 4817600 4817600 + Missense_Mutation SNP G G A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr19:4817600G>A ENST00000248244.5 - 2 1019 c.790C>T c.(790-792)Cca>Tca p.P264S NM_182919.3 NP_891549.1 Q8IUC6 TCAM1_HUMAN toll-like receptor adaptor molecule 1 264 Pro-rich. apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane protein kinase binding|signal transducer activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) AGCTCTGGTGGGCTGGCAATC 0.677000 16 36 0 0 0.003163 0 0 ASCL3 56676 broad.mit.edu 37 11 8959256 8959256 + Silent SNP A A G TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr11:8959256A>G ENST00000325884.1 - 2 512 c.453T>C c.(451-453)ccT>ccC p.P151P ASCL3_ENST00000531618.1_Silent_p.P151P NM_020646.1 NP_065697.1 Q9NQ33 ASCL3_HUMAN achaete-scute family bHLH transcription factor 3 150 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleolus DNA binding breast(1)|large_intestine(2)|lung(5)|stomach(1) 9 Epithelial(150;1.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0228) CAGCTTTATCAGGGTACAGAA 0.463000 4 114 0 0 0.014758 0 0 BMP15 9210 broad.mit.edu 37 X 50659304 50659304 + Silent SNP C C T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chrX:50659304C>T ENST00000252677.3 + 2 876 c.876C>T c.(874-876)tcC>tcT p.S292S NM_005448.2 NP_005439.2 O95972 BMP15_HUMAN bone morphogenetic protein 15 292 female gamete generation|granulosa cell development|ovarian follicle development extracellular space cytokine activity|growth factor activity NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1) 26 Ovarian(276;0.236) ACCAGTGTTCCCTCCACCCTT 0.512000 47 5 0 0 0.014410 0 0 EPHB3 2049 broad.mit.edu 37 3 184293659 184293659 + Missense_Mutation SNP C C T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr3:184293659C>T ENST00000330394.2 + 4 1350 c.898C>T c.(898-900)Ccc>Tcc p.P300S EIF2B5_ENST00000444495.1_Intron NM_004443.3 NP_004434.2 P54753 EPHB3_HUMAN EPH receptor B3 300 Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_cancers(143;1.89e-10)|Ovarian(172;0.0339) Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22) GGGAGAGGGGCCCTGCCTCCC 0.632000 40 36 0 0 0.021022 0 0 OR13C3 138803 broad.mit.edu 37 9 107298467 107298467 + Missense_Mutation SNP C C T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr9:107298467C>T ENST00000374781.2 - 1 670 c.628G>A c.(628-630)Gaa>Aaa p.E210K NM_001001961.1 NP_001001961.1 Q8NGS6 O13C3_HUMAN olfactory receptor, family 13, subfamily C, member 3 210 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1) 19 GCTAATATTTCACATGCGAAA 0.423000 53 65 0 0 0.014410 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107459952 107459952 + Missense_Mutation SNP C C T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr2:107459952C>T ENST00000409382.3 - 2 1092 c.482G>A c.(481-483)gGg>gAg p.G161E ST6GAL2_ENST00000361686.4_Missense_Mutation_p.G161E|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.G161E NM_001142351.1 NP_001135823.1 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 161 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 CGGAAAAGCCCCCTCCCGTGG 0.647000 94 79 0 0 0.014410 0 0 ZNF99 7652 broad.mit.edu 37 19 22939400 22939400 + Missense_Mutation SNP G G A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr19:22939400G>A ENST00000397104.3 - 7 2770 c.2771C>T c.(2770-2772)gCt>gTt p.A924V zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TTGCTTAAAAGCTTTGCCACA 0.368000 17 20 0 0 0.006122 0 0 NPFFR2 10886 broad.mit.edu 37 4 73013454 73013454 + Silent SNP G G A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr4:73013454G>A ENST00000308744.6 + 4 1592 c.1494G>A c.(1492-1494)agG>agA p.R498R NPFFR2_ENST00000395999.1_Silent_p.R399R|NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000358749.3_Silent_p.R396R|NPFFR2_ENST00000506359.1_3'UTR NM_004885.2 NP_004876.2 Q9Y5X5 NPFF2_HUMAN neuropeptide FF receptor 2 498 detection of abiotic stimulus actin cytoskeleton|integral to plasma membrane neuropeptide receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138) TGCTTTATAGGAAAAGTGCTG 0.373000 33 59 0 0 0.017118 0 0 SFI1 9814 broad.mit.edu 37 22 31942914 31942914 + Nonsense_Mutation SNP C C T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr22:31942914C>T ENST00000432498.1 + 5 799 c.406C>T c.(406-408)Cag>Tag p.Q136* SFI1_ENST00000400288.2_Nonsense_Mutation_p.Q136*|SFI1_ENST00000400289.1_Nonsense_Mutation_p.Q54*|SFI1_ENST00000443011.1_Nonsense_Mutation_p.Q54*|SFI1_ENST00000443326.1_Nonsense_Mutation_p.Q54*|SFI1_ENST00000414585.1_Nonsense_Mutation_p.Q54*|SFI1_ENST00000540643.1_Nonsense_Mutation_p.Q112* NM_014775.3 NP_055590.2 A8K8P3 SFI1_HUMAN Sfi1 homolog, spindle assembly associated (yeast) 136 G2/M transition of mitotic cell cycle centriole|cytosol NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3) 38 GTGGGTTTTCCAGCACGAGTG 0.393000 51 67 0 0 0.014410 0 0 CFHR2 3080 broad.mit.edu 37 1 196928177 196928177 + Silent SNP G G A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr1:196928177G>A ENST00000367415.4 + 5 894 c.780G>A c.(778-780)ggG>ggA p.G260G CFHR2_ENST00000476712.1_3'UTR|CFHR2_ENST00000367421.3_Silent_p.G260G NM_005666.2 NP_005657.1 P36980 FHR2_HUMAN complement factor H-related 2 260 Sushi 4. extracellular region large_intestine(2)|ovary(1)|skin(3) 6 GTCAGAATGGGAAACTGGTAT 0.303000 35 11 0 0 0.021022 0 0 CDH15 1013 broad.mit.edu 37 16 89260307 89260307 + Missense_Mutation SNP G G A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr16:89260307G>A ENST00000289746.2 + 13 2202 c.2137G>A c.(2137-2139)Gac>Aac p.D713N NM_004933.2 NP_004924.1 P55291 CAD15_HUMAN cadherin 15, type 1, M-cadherin (myotubule) 713 adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane calcium ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(80;0.0261) GGACATCGCCGACTTCATCAA 0.647000 14 20 0 0 0.020292 0 0 ABCA13 154664 broad.mit.edu 37 7 48317732 48317732 + Missense_Mutation SNP A A G TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr7:48317732A>G ENST00000435803.1 + 18 6965 c.6941A>G c.(6940-6942)gAt>gGt p.D2314G NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 2314 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 CTGAAACTGGATCAATTTCTT 0.239000 8 9 0 0 0.003080 0 0 LRIF1 55791 broad.mit.edu 37 1 111494240 111494240 + Silent SNP G G A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr1:111494240G>A ENST00000369763.4 - 2 1656 c.1266C>T c.(1264-1266)tcC>tcT p.S422S RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000485275.2_Intron|LRIF1_ENST00000494675.1_Intron NM_018372.3 NP_060842.3 Q5T3J3 LRIF1_HUMAN ligand dependent nuclear receptor interacting factor 1 422 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix protein binding endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2) 28 TCTCCATCTGGGAAGATTTAC 0.408000 91 95 0 0 0.014410 0 0 HPS3 84343 broad.mit.edu 37 3 148889998 148889998 + Missense_Mutation SNP C C T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr3:148889998C>T ENST00000296051.2 + 17 3144 c.3004C>T c.(3004-3006)Cca>Tca p.P1002S HPS3_ENST00000460120.1_Missense_Mutation_p.P837S NM_032383.3 NP_115759.2 Q969F9 HPS3_HUMAN Hermansky-Pudlak syndrome 3 1002 cytoplasm breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 34 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) TCGAAAGAAACCATTGACTTA 0.338000 Hermansky-Pudlak syndrome 7 17 0 0 0.003080 0 0 ABL1 25 broad.mit.edu 37 9 133759967 133759967 + Missense_Mutation SNP C C G TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr9:133759967C>G ENST00000318560.5 + 11 2671 c.2290C>G c.(2290-2292)Cgg>Ggg p.R764G NM_005157.4 NP_005148.2 P00519 ABL1_HUMAN c-abl oncogene 1, non-receptor tyrosine kinase 764 actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 1195 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) GGCTCTGCCTCGGAAGAGGGC 0.587000 """T, Mis""" """BCR, ETV6, NUP214""" """CML, ALL, T-ALL""" 22 44 0 0 0.010504 0 0 SDHAP1 255812 broad.mit.edu 37 3 195710993 195710993 + RNA SNP A A G rs4927692 by1000genomes TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr3:195710993A>G ENST00000427841.1 - 0 739 NR_003264.2 CCTCCCGTATAAGGTGTGCAA 0.617000 3 22 0 0 0.014758 0 0 NDFIP2 54602 broad.mit.edu 37 13 80125153 80125153 + Splice_Site SNP C C T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr13:80125153C>T ENST00000218652.7 + 7 961 c.907_splice c.e7-1 p.G303_splice NM_001161407.1|NM_019080.2 NP_001154879.1|NP_061953.2 Q9NV92 NFIP2_HUMAN Nedd4 family interacting protein 2 303 negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination endoplasmic reticulum|Golgi membrane|integral to membrane|mitochondrion|multivesicular body membrane|perinuclear region of cytoplasm signal transducer activity|WW domain binding NS(1)|breast(1)|endometrium(2)|kidney(3)|lung(3)|ovary(2)|prostate(1)|skin(1) 14 Acute lymphoblastic leukemia(28;0.205) GBM - Glioblastoma multiforme(99;0.0196) CCTTCTCAGGCCTGCTCCTTT 0.323000 67 118 0 0 0.014410 0 0 GP2 2813 broad.mit.edu 37 16 20329728 20329728 + Silent SNP C C T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr16:20329728C>T ENST00000302555.5 - 7 1181 c.1032G>A c.(1030-1032)ggG>ggA p.G344G GP2_ENST00000573897.1_5'UTR|GP2_ENST00000381362.4_Silent_p.G347G|GP2_ENST00000381360.5_Silent_p.G200G|GP2_ENST00000341642.5_Silent_p.G197G P55259 GP2_HUMAN glycoprotein 2 (zymogen granule membrane) 347 ZP. anchored to membrane|extracellular region|plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 ACTCTCCATTCCCGTCCACAC 0.473000 91 101 0 0 0.014410 0 0 MIIP 60672 broad.mit.edu 37 1 12091449 12091449 + Missense_Mutation SNP C C T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr1:12091449C>T ENST00000235332.4 + 9 1238 c.1069C>T c.(1069-1071)Cct>Tct p.P357S MIIP_ENST00000436478.2_Silent_p.A324A|MIIP_ENST00000466860.1_3'UTR NM_021933.3 NP_068752.2 Q5JXC2 MIIP_HUMAN migration and invasion inhibitory protein 357 autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1) 15 CACCAGCAGCCCTTTTCACCC 0.647000 43 4 0 0 0.014410 0 0 CCDC144A 9720 broad.mit.edu 37 17 16665012 16665012 + Missense_Mutation SNP G G A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr17:16665012G>A ENST00000443444.2 + 13 3786 c.3646G>A c.(3646-3648)Gaa>Aaa p.E1216K CCDC144A_ENST00000399273.1_Missense_Mutation_p.E1216K|CCDC144A_ENST00000360524.8_Missense_Mutation_p.E1216K|CCDC144A_ENST00000456009.1_Missense_Mutation_p.E982K|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.E1216K A2RUR9 C144A_HUMAN coiled-coil domain containing 144A 1216 AAAATTAAACGAAGCCATTCT 0.323000 17 3 0 0 0.005443 0 0 B4GALNT3 283358 broad.mit.edu 37 12 662562 662562 + Silent SNP C C T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr12:662562C>T ENST00000266383.5 + 14 1486 c.1473C>T c.(1471-1473)tcC>tcT p.S491S NM_173593.3 NP_775864.3 Q6L9W6 B4GN3_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 3 491 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215) OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262) CCCCCTTCTCCAAGCGGAACT 0.642000 38 54 0 0 0.019004 0 0 AGAP2 116986 broad.mit.edu 37 12 58121793 58121793 + Missense_Mutation SNP C C A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr12:58121793C>A ENST00000257897.3 - 14 1710 c.1625G>T c.(1624-1626)cGg>cTg p.R542L AGAP2_ENST00000547588.1_Missense_Mutation_p.R898L|AGAP2-AS1_ENST00000542466.2_3'UTR NM_014770.3 NP_055585.1 Q99490 AGAP2_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 898 G domain. axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction mitochondrion|nucleolus ARF GTPase activator activity|GTP binding|zinc ion binding breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1) 48 CCAGGCATCCCGCTCCTCAAA 0.562000 8 321 0.00448238 0.00992368 0.004482 1 0 OR4S2 219431 broad.mit.edu 37 11 55419000 55419000 + Silent SNP G G A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr11:55419000G>A ENST00000312422.2 + 1 621 c.621G>A c.(619-621)ggG>ggA p.G207G NM_001004059.2 NP_001004059.2 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, member 2 207 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_epithelial(135;0.0748) TTGCTCTGGGGAGTTTTGTTA 0.483000 64 11 0 0 0.014410 0 0 NPC1 4864 broad.mit.edu 37 18 21140301 21140301 + Missense_Mutation SNP G G A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr18:21140301G>A ENST00000269228.5 - 6 1329 c.775C>T c.(775-777)Ccc>Tcc p.P259S NPC1_ENST00000412552.2_5'UTR|NPC1_ENST00000540608.1_5'UTR NM_000271.4 NP_000262.2 O15118 NPC1_HUMAN Niemann-Pick disease, type C1 259 Poly-Pro. autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm hedgehog receptor activity|protein binding|sterol transporter activity breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1) 38 all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127) ATCGTCCAGGGAGCAGGAGGA 0.537000 26 44 0 0 0.021523 0 0 CFAP54 144535 broad.mit.edu 37 12 97137677 97137677 + Silent SNP C C T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr12:97137677C>T ENST00000524981.3 + 21 2899 c.2899C>T c.(2899-2901)Cta>Tta p.L967L Q6ZTY8 CL063_HUMAN 941 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2) 54 TCATAGCATTCTAACTGAACA 0.383000 28 9 0 0 0.009535 0 0 NOBOX 135935 broad.mit.edu 37 7 144097383 144097383 + Silent SNP C C T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr7:144097383C>T ENST00000467773.1 - 5 866 c.867G>A c.(865-867)aaG>aaA p.K289K NOBOX_ENST00000223140.5_Silent_p.K204K|NOBOX_ENST00000483238.1_Silent_p.K289K NM_001080413.3 NP_001073882.3 O60393 NOBOX_HUMAN NOBOX oogenesis homeobox 289 cell differentiation|oogenesis nucleus sequence-specific DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1) 26 Melanoma(164;0.14) CTTGGAATATCTTCTCTAGCT 0.522000 31 47 0 0 0.012213 0 0 APBB2 323 broad.mit.edu 37 4 40947069 40947069 + Nonsense_Mutation SNP G G T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr4:40947069G>T ENST00000295974.8 - 7 1483 c.854C>A c.(853-855)tCa>tAa p.S285* APBB2_ENST00000508593.1_Nonsense_Mutation_p.S286*|APBB2_ENST00000513140.1_Nonsense_Mutation_p.S285*|APBB2_ENST00000506352.1_Nonsense_Mutation_p.S285* NM_001166050.1|NM_004307.1 NP_001159522.1|NP_004298.1 Q92870 APBB2_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 2 285 cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent growth cone|lamellipodium|membrane|nucleus|synapse beta-amyloid binding|transcription factor binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1) 34 AGTCTGAAATGAGTGATCACT 0.478000 36 43 6.02846e-25 1.38998e-24 0.015359 1 0 OR4N2 390429 broad.mit.edu 37 14 20295728 20295728 + Missense_Mutation SNP G G A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr14:20295728G>A ENST00000568211.1 + 1 121 c.121G>A c.(121-123)Gga>Aga p.G41R OR4N2_ENST00000315947.1_Missense_Mutation_p.G41R Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, member 2 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CATCCTCCCTGGAAATTTTCT 0.443000 111 254 0 0 0.014410 0 0 HSD17B11 51170 broad.mit.edu 37 4 88258515 88258515 + Silent SNP G G A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr4:88258515G>A ENST00000358290.4 - 7 1131 c.816C>T c.(814-816)atC>atT p.I272I RP11-529H2.2_ENST00000508163.1_RNA|HSD17B11_ENST00000507518.1_5'UTR|HSD17B11_ENST00000507286.1_Silent_p.I228I NM_016245.3 NP_057329.2 Q8NBQ5 DHB11_HUMAN hydroxysteroid (17-beta) dehydrogenase 11 272 androgen catabolic process|steroid biosynthetic process cytoplasm|extracellular region binding|estradiol 17-beta-dehydrogenase activity cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2) 11 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000339) GCTCAGGAAGGATCCTAAAAG 0.294000 32 43 0 0 0.010818 0 0 PIK3R4 30849 broad.mit.edu 37 3 130422672 130422672 + Missense_Mutation SNP C C T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr3:130422672C>T ENST00000356763.3 - 13 3550 c.2993G>A c.(2992-2994)cGa>cAa p.R998Q NM_014602.2 NP_055417.1 Q99570 PI3R4_HUMAN phosphoinositide-3-kinase, regulatory subunit 4 998 fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 77 GACTCTAATTCGATTCACAGC 0.413000 53 59 0 0 0.014410 0 0 ZNF714 148206 broad.mit.edu 37 19 21300565 21300565 + Silent SNP G G A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr19:21300565G>A ENST00000596143.1 + 5 1420 c.1095G>A c.(1093-1095)gaG>gaA p.E365E ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000291770.7_3'UTR NM_182515.3 NP_872321.2 Q96N38 ZN714_HUMAN zinc finger protein 714 366 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|urinary_tract(2) 18 ATACTGGAGAGAAACCCTACA 0.368000 13 15 0 0 0.016723 0 0 KIAA0226 9711 broad.mit.edu 37 3 197427607 197427607 + Silent SNP G G A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr3:197427607G>A ENST00000273582.5 - 7 1503 c.958C>T c.(958-960)Ctg>Ttg p.L320L KIAA0226_ENST00000389665.5_Silent_p.L380L|KIAA0226_ENST00000296343.5_Silent_p.L380L|KIAA0226_ENST00000449205.1_Silent_p.L380L NM_001145642.2 NP_001139114.1 Q92622 RUBIC_HUMAN KIAA0226 380 Ser-rich. autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis early endosome|late endosome|lysosome protein binding NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.0446) ACACTGGACAGCTGGCTCTCC 0.577000 18 34 0 0 0.008871 0 0 MUC16 94025 broad.mit.edu 37 19 9089213 9089213 + Missense_Mutation SNP C C T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr19:9089213C>T ENST00000397910.4 - 1 2805 c.2602G>A c.(2602-2604)Gaa>Aaa p.E868K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 868 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TTCGAAGTTTCCTCTGTTTCT 0.478000 23 32 0 0 0.014323 0 0 SGSM3 27352 broad.mit.edu 37 22 40803207 40803207 + Nonsense_Mutation SNP G G T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr22:40803207G>T ENST00000248929.9 + 12 1432 c.1243G>T c.(1243-1245)Gag>Tag p.E415* SGSM3_ENST00000454798.2_Nonsense_Mutation_p.E348* NM_015705.4 NP_056520.2 Q96HU1 SGSM3_HUMAN small G protein signaling modulator 3 415 cell cycle arrest|Rap protein signal transduction cytoplasm Rab GTPase activator activity|Rab GTPase binding cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6) 19 CCTCCTAGGGGAGGATGACCT 0.632000 22 29 9.95505e-16 2.2835e-15 0.014323 1 0 RIPK4 54101 broad.mit.edu 37 21 43162114 43162114 + Silent SNP G G A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr21:43162114G>A ENST00000352483.2 - 9 1447 c.1383C>T c.(1381-1383)gcC>gcT p.A461A RIPK4_ENST00000544709.1_Silent_p.A350A|RIPK4_ENST00000332512.3_Silent_p.A413A|RIPK4_ENST00000542057.1_Silent_p.A350A Q96T11 Q96T11_HUMAN receptor-interacting serine-threonine kinase 4 413 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 CGGACACGATGGCATCCACAA 0.627000 97 104 0 0 0.014410 0 0 ZNF544 27300 broad.mit.edu 37 19 58773811 58773811 + Silent SNP C C T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr19:58773811C>T ENST00000269829.4 + 7 2313 c.1839C>T c.(1837-1839)ttC>ttT p.F613F ZNF544_ENST00000596825.1_3'UTR|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000600220.1_Silent_p.F585F|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000415203.2_Silent_p.F585F|ZNF544_ENST00000596652.1_Silent_p.F613F|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000599953.1_Silent_p.F471F|ZNF544_ENST00000600044.1_Silent_p.F585F|ZNF544_ENST00000599227.1_3'UTR|CTD-3138B18.4_ENST00000600029.1_Intron NM_014480.2 NP_055295.2 Q6NX49 ZN544_HUMAN zinc finger protein 544 613 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1) 18 all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018) GAAAAGCCTTCAATCGAAGCA 0.453000 45 54 0 0 0.014410 0 0 RAET1K 646024 broad.mit.edu 37 6 150322321 150322321 + RNA SNP C C T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr6:150322321C>T ENST00000533735.1 - 0 555 NR_024045.1 CCCCACCCTGCTTCCTTTCCT 0.512000 6 2 0 0 0.001168 0 0 CENPU 79682 broad.mit.edu 37 4 185621975 185621975 + Splice_Site SNP G G A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr4:185621975G>A ENST00000281453.5 - 11 1055 c.986_splice c.e11+1 p.R329_splice MLF1IP_ENST00000506535.1_Intron|MLF1IP_ENST00000541971.1_Splice_Site_p.R329_splice NM_024629.3 NP_078905.2 Q71F23 CENPU_HUMAN 329 CenH3-containing nucleosome assembly at centromere|interspecies interaction between organisms|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|condensed chromosome kinetochore|cytosol|nucleoplasm endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|stomach(1) 13 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146) all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419) GTATCTTACCGAAGCAGTTCA 0.363000 39 65 0 0 0.010771 0 0 SLC8A1 6546 broad.mit.edu 37 2 40656313 40656313 + Missense_Mutation SNP G G A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr2:40656313G>A ENST00000406785.1 - 2 1297 c.1108C>T c.(1108-1110)Cgc>Tgc p.R370C SLC8A1_ENST00000405269.1_Missense_Mutation_p.R370C|SLC8A1_ENST00000403092.1_Missense_Mutation_p.R370C|SLC8A1_ENST00000402441.1_Missense_Mutation_p.R370C|SLC8A1_ENST00000332839.4_Missense_Mutation_p.R370C|SLC8A1_ENST00000542756.1_Missense_Mutation_p.R370C|SLC8A1_ENST00000542024.1_Missense_Mutation_p.R370C|SLC8A1_ENST00000405901.3_Missense_Mutation_p.R370C|SLC8A1_ENST00000408028.2_Missense_Mutation_p.R370C|SLC8A1_ENST00000406391.2_Missense_Mutation_p.R370C P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 370 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding p.R370S(1) NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) GTCATGAGGCGAGTAGCTTGA 0.428000 46 63 0 0 0.014410 0 0 BMP10 27302 broad.mit.edu 37 2 69093611 69093611 + Missense_Mutation SNP C C T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr2:69093611C>T ENST00000295379.1 - 2 585 c.427G>A c.(427-429)Gct>Act p.A143T NM_014482.1 NP_055297.1 O95393 BMP10_HUMAN bone morphogenetic protein 10 143 A -> T (in Ref. 3; AAH69080). activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis cell surface|extracellular space|Z disc cytokine activity|growth factor activity|receptor serine/threonine kinase binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2) 27 CTAAGTTCAGCCATGATGACC 0.453000 21 28 0 0 0.010504 0 0 TTN 7273 broad.mit.edu 37 2 179472337 179472337 + Missense_Mutation SNP G G A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr2:179472337G>A ENST00000589042.1 - 277 53302 c.53078C>T c.(53077-53079)cCa>cTa p.P17693L TTN_ENST00000359218.5_Missense_Mutation_p.P8753L|TTN_ENST00000342992.6_Missense_Mutation_p.P15125L|TTN_ENST00000342175.6_Missense_Mutation_p.P8820L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P8628L|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P16052L|TTN-AS1_ENST00000590807.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 16052 Fibronectin type-III 28. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CACCACAGCTGGAATTCTAAG 0.458000 112 145 0 0 0.014410 0 0 RUNX1T1 862 broad.mit.edu 37 8 92988200 92988200 + Splice_Site SNP G G A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr8:92988200G>A ENST00000523629.1 - 10 1735 c.1279_splice c.e10-1 p.D427_splice RUNX1T1_ENST00000518844.1_Splice_Site_p.D400_splice|RUNX1T1_ENST00000520724.1_Splice_Site_p.D390_splice|RUNX1T1_ENST00000436581.2_Splice_Site_p.D438_splice|RUNX1T1_ENST00000396218.1_Splice_Site_p.D400_splice|RUNX1T1_ENST00000265814.3_Splice_Site_p.D427_splice|GS1-5L10.1_ENST00000522980.1_RNA|RUNX1T1_ENST00000360348.2_Splice_Site_p.D390_splice|RUNX1T1_ENST00000422361.2_Splice_Site_p.D390_splice NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 427 D -> G (in Ref. 2; AAC26143). generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) CCCGATGCGCGTCTATGAAAA 0.483000 7 173 0 0 0.003080 0 0 C4B 721 broad.mit.edu 37 6 31997061 31997061 + Missense_Mutation SNP G G A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr6:31997061G>A ENST00000435363.2 + 28 3706 c.3622G>A c.(3622-3624)Gac>Aac p.D1208N C4B_ENST00000425700.2_Missense_Mutation_p.D1208N NM_001002029.3 NP_001002029.3 P0C0L5 CO4B_HUMAN complement component 4B (Chido blood group) 1208 complement activation, classical pathway|inflammatory response|innate immune response extracellular space endopeptidase inhibitor activity GGCCCCTGCGGACCTGCGGGG 0.647000 30 36 0 0 0.009535 0 0 TRPC4 7223 broad.mit.edu 37 13 38266172 38266172 + Missense_Mutation SNP T T C TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr13:38266172T>C ENST00000379705.3 - 4 2055 c.1198A>G c.(1198-1200)Acc>Gcc p.T400A TRPC4_ENST00000355779.2_Missense_Mutation_p.T400A|TRPC4_ENST00000338947.5_Missense_Mutation_p.T227A|TRPC4_ENST00000379673.2_Missense_Mutation_p.T400A|TRPC4_ENST00000379679.1_Missense_Mutation_p.T227A|TRPC4_ENST00000426868.2_Missense_Mutation_p.T400A|TRPC4_ENST00000379681.3_Missense_Mutation_p.T400A|TRPC4_ENST00000358477.2_Missense_Mutation_p.T400A|TRPC4_ENST00000447043.1_Missense_Mutation_p.T400A Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 400 axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) TCGACGATGGTTGGTGGTGGA 0.453000 36 34 0 0 0.006230 0 0 RNA5-8SP2 100873571 broad.mit.edu 37 16 33965518 33965518 + RNA SNP G G A rs483066 TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr16:33965518G>A ENST00000363564.1 + 0 93 ATTGATCATCGACACTTCGAA 0.557000 12 16 0 0 0.016723 0 0 BMX 660 broad.mit.edu 37 X 15540574 15540574 + Missense_Mutation SNP C C G TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chrX:15540574C>G ENST00000357607.2 + 7 804 c.616C>G c.(616-618)Cca>Gca p.P206A BMX_ENST00000342014.6_Missense_Mutation_p.P206A|BMX_ENST00000348343.6_Missense_Mutation_p.P206A P51813 BMX_HUMAN BMX non-receptor tyrosine kinase 206 cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3) 30 Hepatocellular(33;0.183) TGGCTCCCAGCCACCATCTTC 0.443000 4 70 0 0 0.009096 0 0 MESDC2 23184 broad.mit.edu 37 15 81271781 81271781 + Missense_Mutation SNP G G A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr15:81271781G>A ENST00000261758.4 - 3 570 c.484C>T c.(484-486)Cgc>Tgc p.R162C NM_015154.1 NP_055969.1 Q14696 MESD_HUMAN mesoderm development candidate 2 162 Chaperone domain (By similarity). mesoderm development|protein folding|Wnt receptor signaling pathway endoplasmic reticulum cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1) 8 CTCCCATCGCGAAGCATGAAG 0.547000 17 28 0 0 0.006122 0 0 FLRT2 23768 broad.mit.edu 37 14 86089781 86089781 + Silent SNP C C T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr14:86089781C>T ENST00000330753.4 + 2 2690 c.1923C>T c.(1921-1923)atC>atT p.I641I FLRT2_ENST00000554746.1_Silent_p.I641I NM_013231.4 NP_037363.1 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 641 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) ACTGCCATATCCCCAACAACA 0.493000 140 191 0 0 0.014410 0 0 AKAP6 9472 broad.mit.edu 37 14 33015958 33015958 + Missense_Mutation SNP C C T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr14:33015958C>T ENST00000280979.4 + 4 2269 c.2099C>T c.(2098-2100)tCa>tTa p.S700L AKAP6_ENST00000557354.1_Missense_Mutation_p.S700L|AKAP6_ENST00000557272.1_Missense_Mutation_p.S700L NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 700 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) TCTCCAAGCTCATCTAGTGAC 0.468000 28 34 0 0 0.006320 0 0 ZFHX4 79776 broad.mit.edu 37 8 77767673 77767673 + Missense_Mutation SNP C C T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr8:77767673C>T ENST00000521891.2 + 10 8964 c.8516C>T c.(8515-8517)cCc>cTc p.P2839L ZFHX4_ENST00000455469.2_Missense_Mutation_p.P2794L|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P2813L|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P2794L NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2794 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) GCTTTGTCTCCCAAAGAGCCA 0.498000 HNSCC(33;0.089) 21 29 0 0 0.012319 0 0 CES1 1066 broad.mit.edu 37 16 55857517 55857517 + Missense_Mutation SNP C C T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr16:55857517C>T ENST00000422046.2 - 4 762 c.481G>A c.(481-483)Gaa>Aaa p.E161K CES1_ENST00000566555.1_5'UTR|CES1_ENST00000360526.3_Missense_Mutation_p.E162K|CES1_ENST00000361503.4_Missense_Mutation_p.E161K P23141 EST1_HUMAN carboxylesterase 1 161 response to toxin endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity all cancers(182;0.13)|Epithelial(162;0.137) Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691) ACCACGTTTTCATGGGCAGCA 0.567000 16 68 0 0 0.007413 0 0 GBA3 57733 broad.mit.edu 37 4 22749054 22749054 + RNA SNP C C T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr4:22749054C>T ENST00000508166.1 + 0 524 GBA3_ENST00000511446.1_RNA|GBA3_ENST00000503442.1_RNA NM_020973.4 NP_066024.1 Q9H227 GBA3_HUMAN glucosidase, beta, acid 3 (gene/pseudogene) glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 ATCATTGAATCCTTTGACAAA 0.408000 51 64 0 0 0.014410 0 0 ANKRD11 29123 broad.mit.edu 37 16 89357183 89357183 + Missense_Mutation SNP G G A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr16:89357183G>A ENST00000301030.4 - 6 911 c.451C>T c.(451-453)Ccc>Tcc p.P151S ANKRD11_ENST00000378330.2_Missense_Mutation_p.P151S NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 151 nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) GCAGAGTTGGGCGTTCCCTTC 0.592000 47 53 0 0 0.014410 0 0 GHR 2690 broad.mit.edu 37 5 42695075 42695075 + Missense_Mutation SNP G G A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr5:42695075G>A ENST00000230882.4 + 5 513 c.323G>A c.(322-324)gGg>gAg p.G108E GHR_ENST00000357703.3_Missense_Mutation_p.G86E|GHR_ENST00000537449.1_5'UTR NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2 NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1 P10912 GHR_HUMAN growth hormone receptor 108 2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) GTTTCTGCTGGGGAAAACAGC 0.358000 15 2 0 0 0.003163 0 0 GDA 9615 broad.mit.edu 37 9 74817548 74817548 + Missense_Mutation SNP G G A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr9:74817548G>A ENST00000358399.3 + 3 367 c.274G>A c.(274-276)Gga>Aga p.G92R GDA_ENST00000376986.1_Missense_Mutation_p.G50R|GDA_ENST00000545168.1_Missense_Mutation_p.G18R|GDA_ENST00000477618.1_3'UTR|GDA_ENST00000376989.3_Missense_Mutation_p.G67R|GDA_ENST00000238018.4_Missense_Mutation_p.G92R NM_001242505.2|NM_001242506.2|NM_004293.4 NP_001229434.1|NP_001229435.1|NP_004284.1 Q9Y2T3 GUAD_HUMAN guanine deaminase 92 nervous system development|purine base metabolic process|purine nucleotide catabolic process cytosol guanine deaminase activity|zinc ion binding central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1) 32 Myeloproliferative disorder(762;0.0122) Lung(182;0.0583) TTCCTTTGCTGGAAGTAGCAT 0.413000 47 56 0 0 0.014410 0 0 RP1L1 94137 broad.mit.edu 37 8 10470689 10470689 + Missense_Mutation SNP C C T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr8:10470689C>T ENST00000382483.3 - 4 1142 c.919G>A c.(919-921)Gat>Aat p.D307N NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 307 intracellular signal transduction p.D307N(1) breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) TTCATGTCATCGCCAGCCACC 0.647000 75 8 0 0 0.014410 0 0 CPZ 8532 broad.mit.edu 37 4 8621281 8621281 + Silent SNP C C T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr4:8621281C>T ENST00000429646.2 + 9 3513 c.720C>T c.(718-720)ccC>ccT p.P240P CPZ_ENST00000315782.6_Silent_p.P621P|CPZ_ENST00000360986.4_Silent_p.P632P|CPZ_ENST00000382480.2_Silent_p.P495P Q66K79 CBPZ_HUMAN carboxypeptidase Z 632 proteolysis|Wnt receptor signaling pathway proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 GGAGTAAGCCCTGGTGGTGGT 0.706000 26 27 0 0 0.008361 0 0 SLC9A4 389015 broad.mit.edu 37 2 103148791 103148791 + Missense_Mutation SNP G G A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr2:103148791G>A ENST00000295269.4 + 12 2498 c.2041G>A c.(2041-2043)Gat>Aat p.D681N NM_001011552.3 NP_001011552.2 Q6AI14 SL9A4_HUMAN solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 681 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 TTTCCTAGATGATGACAGCAG 0.443000 42 57 0 0 0.014410 0 0 F13A1 2162 broad.mit.edu 37 6 6248600 6248600 + Missense_Mutation SNP A A G TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr6:6248600A>G ENST00000264870.3 - 6 1008 c.743T>C c.(742-744)aTg>aCg p.M248T NM_000129.3 NP_000120.2 P00488 F13A_HUMAN coagulation factor XIII, A1 polypeptide 248 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) AGAGAGGTCCATTTGTGCTCT 0.438000 20 32 0 0 0.014323 0 0 TTN 7273 broad.mit.edu 37 2 179474673 179474673 + Silent SNP A A G TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr2:179474673A>G ENST00000589042.1 - 272 51701 c.51477T>C c.(51475-51477)ccT>ccC p.P17159P TTN_ENST00000359218.5_Silent_p.P8219P|TTN_ENST00000342992.6_Silent_p.P14591P|TTN_ENST00000342175.6_Silent_p.P8286P|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.P8094P|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.P15518P|TTN-AS1_ENST00000590807.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 15518 Fibronectin type-III 24. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CCTCCGCTGTAGGATTATGAA 0.403000 11 168 0 0 0.010729 0 0 C4orf40 401137 broad.mit.edu 37 4 71024155 71024155 + Silent SNP C C T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr4:71024155C>T ENST00000344526.5 + 3 375 c.186C>T c.(184-186)taC>taT p.Y62Y C4orf40_ENST00000502294.1_Silent_p.Y62Y|C4orf40_ENST00000502441.2_Intron NM_214711.3 NP_999876.2 Q6MZM9 CD040_HUMAN chromosome 4 open reading frame 40 62 extracellular region breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 TCCCCAGTTACCCTGGGAATA 0.458000 76 91 0 0 0.014410 0 0 SLC13A4 26266 broad.mit.edu 37 7 135369006 135369006 + Missense_Mutation SNP C C T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr7:135369006C>T ENST00000354042.4 - 15 2298 c.1609G>A c.(1609-1611)Gaa>Aaa p.E537K C7orf73_ENST00000422968.1_Intron|SLC13A4_ENST00000491630.1_Intron NM_012450.2 NP_036582.2 Q9UKG4 S13A4_HUMAN solute carrier family 13 (sodium/sulfate symporter), member 4 537 integral to plasma membrane sodium:sulfate symporter activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2) 24 TGCAGCGTTTCAGACTAGAAG 0.483000 33 37 0 0 0.019004 0 0 EPHA10 284656 broad.mit.edu 37 1 38227533 38227533 + Missense_Mutation SNP C C T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr1:38227533C>T ENST00000373048.4 - 3 393 c.394G>A c.(394-396)Gaa>Aaa p.E132K EPHA10_ENST00000319637.6_Missense_Mutation_p.E132K|EPHA10_ENST00000427468.2_Missense_Mutation_p.E132K NM_001099439.1 NP_001092909.1 Q5JZY3 EPHAA_HUMAN EPH receptor A10 132 extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GCCTCAGTTTCCAGGTAGTAG 0.657000 53 65 0 0 0.014410 0 0 ST8SIA2 8128 broad.mit.edu 37 15 92977491 92977491 + Missense_Mutation SNP T T G TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr15:92977491T>G ENST00000268164.3 + 3 413 c.176T>G c.(175-177)aTa>aGa p.I59R ST8SIA2_ENST00000539113.1_Missense_Mutation_p.I38R NM_006011.3 NP_006002.1 Q92186 SIA8B_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 59 axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1) 20 Lung NSC(78;0.0893)|all_lung(78;0.125) BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203) GAAGTTGTAATAAACGGCTCC 0.448000 6 119 0 0 0.003080 0 0 ROR2 4920 broad.mit.edu 37 9 94493274 94493274 + Silent SNP G G A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr9:94493274G>A ENST00000375708.3 - 7 1299 c.1101C>T c.(1099-1101)aaC>aaT p.N367N ROR2_ENST00000375715.1_Silent_p.N227N|ROR2_ENST00000550066.1_5'UTR NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 367 Kringle. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 GGCCTCCGGGGTTCCGGCAGT 0.612000 18 27 0 0 0.007413 0 0 LRTM1 57408 broad.mit.edu 37 3 54959002 54959002 + Missense_Mutation SNP T T C TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr3:54959002T>C ENST00000273286.5 - 2 410 c.248A>G c.(247-249)aAc>aGc p.N83S LRTM1_ENST00000493075.1_Missense_Mutation_p.N7S|CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000474759.1_Intron NM_020678.2 NP_065729.1 Q9HBL6 LRTM1_HUMAN leucine-rich repeats and transmembrane domains 1 83 integral to membrane p.N83S(1) breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4) 21 KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502) AAGGGAATTGTTGGACAAGTT 0.453000 15 30 0 0 0.020292 0 0 KCNK1 3775 broad.mit.edu 37 1 233807194 233807194 + Missense_Mutation SNP G G A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr1:233807194G>A ENST00000366621.3 + 3 1097 c.929G>A c.(928-930)gGc>gAc p.G310D KCNK1_ENST00000472190.1_3'UTR|KCNK1_ENST00000366620.1_Missense_Mutation_p.G194D NM_002245.3 NP_002236.1 O00180 KCNK1_HUMAN potassium channel, subfamily K, member 1 310 voltage-gated potassium channel complex inward rectifier potassium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1) 11 all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175) Ibutilide(DB00308)|Quinidine(DB00908) CAGGCAGCTGGCATGAAAGAG 0.498000 28 33 0 0 0.007291 0 0 SLC5A6 8884 broad.mit.edu 37 2 27427751 27427751 + Silent SNP G G A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr2:27427751G>A ENST00000310574.3 - 8 1256 c.783C>T c.(781-783)ttC>ttT p.F261F SLC5A6_ENST00000408041.1_Silent_p.F261F NM_021095.2 NP_066918.2 Q9Y289 SC5A6_HUMAN solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6 261 biotin metabolic process|pantothenate metabolic process integral to plasma membrane|membrane fraction sodium-dependent multivitamin transmembrane transporter activity endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1) 20 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Biotin(DB00121)|Lipoic Acid(DB00166) AGACACCCCCGAAGGCCAAGG 0.582000 37 30 0 0 0.006999 0 0 EMR3 84658 broad.mit.edu 37 19 14779619 14779619 + Missense_Mutation SNP G G A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr19:14779619G>A ENST00000253673.5 - 2 171 c.71C>T c.(70-72)aCc>aTc p.T24I EMR3_ENST00000599900.1_5'UTR|EMR3_ENST00000595472.1_Missense_Mutation_p.T24I|EMR3_ENST00000443157.2_Missense_Mutation_p.T24I|EMR3_ENST00000344373.4_Missense_Mutation_p.T24I NM_032571.3 NP_115960.2 Q9BY15 EMR3_HUMAN egf-like module containing, mucin-like, hormone receptor-like 3 24 EGF-like 1. neuropeptide signaling pathway extracellular space|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 50 CTCACTTTTGGTTTTCTGAGT 0.512000 21 44 0 0 0.012319 0 0 TSSC2 650368 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 7 55 0 0 0.001984 0 0 OR51L1 119682 broad.mit.edu 37 11 5021013 5021013 + Silent SNP G G A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr11:5021013G>A ENST00000321543.1 + 1 801 c.801G>A c.(799-801)ggG>ggA p.G267G NM_001004755.1 NP_001004755.1 Q8NGJ5 O51L1_HUMAN olfactory receptor, family 51, subfamily L, member 1 267 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1) 31 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) ATCGCTTTGGGAAGCATCTGT 0.463000 14 39 0 0 0.016723 0 0 LIPE 3991 broad.mit.edu 37 19 42930801 42930801 + Silent SNP C C T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr19:42930801C>T ENST00000244289.4 - 1 777 c.501G>A c.(499-501)agG>agA p.R167R LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000597203.1_RNA NM_005357.2 NP_005348.2 Q05469 LIPS_HUMAN lipase, hormone-sensitive 167 cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process caveola|cytosol hormone-sensitive lipase activity|protein binding breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 32 Prostate(69;0.00682) CAGATGGCTCCCTTTTGGCTC 0.572000 43 53 0 0 0.014410 0 0 CPPED1 55313 broad.mit.edu 37 16 12758963 12758963 + Missense_Mutation SNP A A G TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr16:12758963A>G ENST00000381774.4 - 4 965 c.725T>C c.(724-726)gTc>gCc p.V242A CPPED1_ENST00000433677.2_Missense_Mutation_p.V100A|CPPED1_ENST00000261660.4_Intron NM_018340.2 NP_060810.2 Q9BRF8 CPPED_HUMAN calcineurin-like phosphoesterase domain containing 1 242 hydrolase activity|metal ion binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1) 18 TGAGAACACGACTTTGACACC 0.517000 7 22 0 0 0.006214 0 0 PI4KA 5297 broad.mit.edu 37 22 21174114 21174114 + Missense_Mutation SNP C C G TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr22:21174114C>G ENST00000255882.6 - 6 690 c.604G>C c.(604-606)Gag>Cag p.E202Q PI4KA_ENST00000572273.1_Missense_Mutation_p.E144Q NM_058004.3 NP_477352.3 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha 144 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) AGGAGAGACTCTTCCATGTTG 0.468000 63 102 0 0 0.014410 0 0 ART4 420 broad.mit.edu 37 12 14994061 14994061 + Silent SNP G G A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr12:14994061G>A ENST00000228936.4 - 2 552 c.171C>T c.(169-171)ttC>ttT p.F57F RP11-233G1.4_ENST00000444324.2_RNA|C12orf60_ENST00000527783.1_Intron NM_021071.2 NP_066549.2 Q93070 NAR4_HUMAN ADP-ribosyltransferase 4 57 arginine metabolic process|protein ADP-ribosylation anchored to membrane|plasma membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3) 15 AACCTGGTGCGAAGTCGAAGT 0.373000 26 48 0 0 0.004656 0 0 ABCC1 4363 broad.mit.edu 37 16 16205272 16205272 + Missense_Mutation SNP G G A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr16:16205272G>A ENST00000399408.2 + 23 3117 c.2942G>A c.(2941-2943)gGa>gAa p.G981E ABCC1_ENST00000399410.3_Missense_Mutation_p.G971E|ABCC1_ENST00000346370.5_Missense_Mutation_p.G915E|ABCC1_ENST00000349029.5_Missense_Mutation_p.G856E|ABCC1_ENST00000351154.5_Missense_Mutation_p.G912E|ABCC1_ENST00000345148.5_Missense_Mutation_p.G971E P33527 MRP1_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 1 971 ABC transmembrane type-1 2. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3) 56 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) AAGGCCATCGGACTCTTCATC 0.547000 82 109 0 0 0.014410 0 0 LRRC52 440699 broad.mit.edu 37 1 165513978 165513978 + Missense_Mutation SNP A A C TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr1:165513978A>C ENST00000294818.1 + 1 735 c.445A>C c.(445-447)Acc>Ccc p.T149P RP11-280O1.2_ENST00000421273.1_RNA|RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA NM_001005214.3 NP_001005214.2 Q8N7C0 LRC52_HUMAN leucine rich repeat containing 52 149 integral to membrane NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1) 18 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) CTTTGCCAACACCACCTCTTT 0.522000 83 94 0 0 0.014410 0 0 KIF3C 3797 broad.mit.edu 37 2 26178485 26178485 + Silent SNP C C T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr2:26178485C>T ENST00000264712.3 - 3 2274 c.1695G>A c.(1693-1695)gaG>gaA p.E565E KIF3C_ENST00000405914.1_Silent_p.E565E NM_002254.6 NP_002245.4 O14782 KIF3C_HUMAN kinesin family member 3C 565 blood coagulation|microtubule-based movement cytosol|kinesin complex|microtubule ATP binding|microtubule motor activity breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCATAGTCTCCTCGTCCCGGA 0.592000 7 87 0 0 0.003080 0 0 NOX4 50507 broad.mit.edu 37 11 89069079 89069079 + Missense_Mutation SNP G G A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr11:89069079G>A ENST00000535633.1 - 17 1788 c.1478C>T c.(1477-1479)tCa>tTa p.S493L NOX4_ENST00000528341.1_Missense_Mutation_p.S492L|NOX4_ENST00000525196.1_Missense_Mutation_p.S281L|NOX4_ENST00000263317.4_Missense_Mutation_p.S517L|NOX4_ENST00000531342.1_Missense_Mutation_p.S170L|NOX4_ENST00000527956.1_Missense_Mutation_p.S493L|NOX4_ENST00000375979.3_Missense_Mutation_p.S210L|NOX4_ENST00000424319.1_Missense_Mutation_p.S493L|NOX4_ENST00000534731.1_Missense_Mutation_p.S477L|NOX4_ENST00000532825.1_Missense_Mutation_p.S453L|NOX4_ENST00000343727.5_Missense_Mutation_p.S493L|NOX4_ENST00000413594.2_Missense_Mutation_p.S538L|NOX4_ENST00000542487.1_Missense_Mutation_p.S493L|NOX4_ENST00000527626.1_Missense_Mutation_p.S330L NM_001143836.1|NM_016931.3 NP_001137308.1|NP_058627.1 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 517 Mediates interaction with TLR4. cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2) 44 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) AAACAGTCTTGAATTCAGTGC 0.323000 30 4 0 0 0.017118 0 0 DSC1 1823 broad.mit.edu 37 18 28714632 28714632 + Silent SNP C C T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr18:28714632C>T ENST00000257197.3 - 12 2040 c.1779G>A c.(1777-1779)ctG>ctA p.L593L RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Silent_p.L593L NM_004948.3 NP_004939.1 Q08554 DSC1_HUMAN desmocollin 1 593 Cadherin 5. homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) CTACAGGTTTCAGAACAGCAA 0.378000 14 20 0 0 0.003163 0 0 SND1 27044 broad.mit.edu 37 7 127343259 127343259 + Missense_Mutation SNP C C T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr7:127343259C>T ENST00000354725.3 + 7 916 c.722C>T c.(721-723)cCa>cTa p.P241L NM_014390.2 NP_055205.2 Q7KZF4 SND1_HUMAN staphylococcal nuclease and tudor domain containing 1 241 TNase-like 2. gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent melanosome|nucleus|RNA-induced silencing complex nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 41 AGTGAAACTCCAGAGCCTTTT 0.488000 36 55 0 0 0.017118 0 0 EIF3D 8664 broad.mit.edu 37 22 36922104 36922104 + Missense_Mutation SNP G G A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr22:36922104G>A ENST00000216190.8 - 2 435 c.65C>T c.(64-66)cCc>cTc p.P22L EIF3D_ENST00000541106.1_Missense_Mutation_p.P22L|EIF3D_ENST00000405442.1_Missense_Mutation_p.P22L NM_003753.3 NP_003744.1 O15371 EIF3D_HUMAN eukaryotic translation initiation factor 3, subunit D 22 cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 15 AAACTGCTCGGGAACCGCACA 0.512000 37 52 0 0 0.019004 0 0 NLRP11 204801 broad.mit.edu 37 19 56313004 56313004 + Missense_Mutation SNP G G A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr19:56313004G>A ENST00000443188.1 - 7 2815 c.2105C>T c.(2104-2106)tCc>tTc p.S702F NLRP11_ENST00000360133.3_Missense_Mutation_p.S648F|NLRP11_ENST00000592953.1_Missense_Mutation_p.S603F|NLRP11_ENST00000589824.2_Missense_Mutation_p.S648F|NLRP11_ENST00000589093.1_Missense_Mutation_p.S702F NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 702 ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) CATATTTAGGGAAATGGACGT 0.463000 44 69 0 0 0.010771 0 0 BMX 660 broad.mit.edu 37 X 15555257 15555257 + Splice_Site SNP G G A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chrX:15555257G>A ENST00000357607.2 + 14 1411 c.1222_splice c.e14-1 p.G408_splice BMX_ENST00000342014.6_Splice_Site_p.G408_splice|BMX_ENST00000348343.6_Splice_Site_p.G408_splice P51813 BMX_HUMAN BMX non-receptor tyrosine kinase 408 cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3) 30 Hepatocellular(33;0.183) GCCTTGTTAGGAATCTGGGAA 0.483000 111 11 0 0 0.014410 0 0 EPHA4 2043 broad.mit.edu 37 2 222308250 222308250 + Missense_Mutation SNP G G C TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr2:222308250G>C ENST00000281821.2 - 10 1892 c.1851C>G c.(1849-1851)gaC>gaG p.D617E EPHA4_ENST00000392071.4_Missense_Mutation_p.D566E|EPHA4_ENST00000409854.1_Missense_Mutation_p.D617E|EPHA4_ENST00000409938.1_Missense_Mutation_p.D617E NM_004438.3 NP_004429.1 P54764 EPHA4_HUMAN EPH receptor A4 617 integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Renal(207;0.0183) Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154) TGCAGGATGCGTCAATTTCTT 0.408000 19 35 0 0 0.010504 0 0 ACTN1 87 broad.mit.edu 37 14 69369277 69369277 + Missense_Mutation SNP T T C TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr14:69369277T>C ENST00000193403.6 - 8 1062 c.679A>G c.(679-681)Atc>Gtc p.I227V ACTN1_ENST00000538545.2_Missense_Mutation_p.I227V|ACTN1_ENST00000376839.3_Missense_Mutation_p.I162V|ACTN1_ENST00000394419.4_Missense_Mutation_p.I227V|ACTN1_ENST00000554508.1_5'UTR|ACTN1_ENST00000438964.2_Missense_Mutation_p.I227V NM_001102.3 NP_001093.1 P12814 ACTN1_HUMAN actinin, alpha 1 227 Actin-binding.|CH 2. focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere actin binding|calcium ion binding|integrin binding|vinculin binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654) GTTCCAACGATGTCTGTCAAG 0.547000 5 101 0 0 0.014758 0 0 PEAR1 375033 broad.mit.edu 37 1 156873748 156873748 + Silent SNP C C T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr1:156873748C>T ENST00000338302.3 + 3 255 c.30C>T c.(28-30)ctC>ctT p.L10L PEAR1_ENST00000292357.7_Silent_p.L10L Q5VY43 PEAR1_HUMAN platelet endothelial aggregation receptor 1 10 integral to membrane breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1) 43 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CCCTCCTTCTCCTGGCTGTGG 0.647000 55 78 0 0 0.014410 0 0 CTSV 1515 broad.mit.edu 37 9 99797857 99797857 + Missense_Mutation SNP G G A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr9:99797857G>A ENST00000259470.5 - 6 989 c.740C>T c.(739-741)tCc>tTc p.S247F CTSV_ENST00000538255.1_Missense_Mutation_p.S247F NM_001333.3 NP_001324.2 cathepsin V CATAGCAACGGAGATGGGCCC 0.473000 20 24 0 0 0.010504 0 0 RHOV 171177 broad.mit.edu 37 15 41165519 41165519 + Missense_Mutation SNP C C T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr15:41165519C>T ENST00000220507.4 - 3 597 c.448G>A c.(448-450)Gat>Aat p.D150N NM_133639.3 NP_598378.3 Q96L33 RHOV_HUMAN ras homolog family member V 150 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|endosome membrane|plasma membrane GTP binding|metal ion binding central_nervous_system(1)|large_intestine(1) 2 all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163) ACGTTGACATCGTCCCTCAGG 0.642000 60 47 0 0 0.014410 0 0 ECM2 1842 broad.mit.edu 37 9 95277159 95277159 + Missense_Mutation SNP C C T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr9:95277159C>T ENST00000344604.5 - 4 957 c.808G>A c.(808-810)Gag>Aag p.E270K CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Missense_Mutation_p.E248K NM_001197295.1|NM_001393.3 NP_001184224.1|NP_001384.1 O94769 ECM2_HUMAN extracellular matrix protein 2, female organ and adipocyte specific 270 Poly-Glu. cell-matrix adhesion integrin binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 tcctcctcctccCTTCCTTGG 0.602000 76 87 0 0 0.014410 0 0 SCAP 22937 broad.mit.edu 37 3 47462218 47462218 + Silent SNP G G A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr3:47462218G>A ENST00000265565.5 - 12 1801 c.1389C>T c.(1387-1389)ccC>ccT p.P463P SCAP_ENST00000465628.1_5'UTR|SCAP_ENST00000441517.2_Silent_p.P208P|SCAP_ENST00000545718.1_Silent_p.P71P NM_012235.2 NP_036367.2 Q12770 SCAP_HUMAN SREBF chaperone 463 cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane unfolded protein binding endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 26 BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679) GCTTGGCTGAGGGCAGGCAGG 0.647000 OREG0015548 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 45 0 0 0.021523 0 0 C1QTNF9 338872 broad.mit.edu 37 13 24895678 24895678 + Silent SNP C C T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr13:24895678C>T ENST00000382071.2 + 4 859 c.774C>T c.(772-774)ttC>ttT p.F258F C1QTNF9_ENST00000332018.4_Silent_p.F258F|C1QTNF9-AS1_ENST00000449656.1_RNA P0C862 C1T9A_HUMAN C1q and tumor necrosis factor related protein 9 258 C1q. collagen hormone activity endometrium(1)|kidney(2)|lung(6) 9 all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159) TCACTGTTTTCTCCAGAAATG 0.448000 56 33 0 0 0.014410 0 0 FLNC 2318 broad.mit.edu 37 7 128490916 128490916 + Missense_Mutation SNP G G A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr7:128490916G>A ENST00000325888.8 + 33 5719 c.5458G>A c.(5458-5460)Ggc>Agc p.G1820S FLNC_ENST00000346177.6_Missense_Mutation_p.G1787S|RP11-309L24.2_ENST00000469965.1_RNA NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 1820 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 CAACAAGGACGGCACCATCAC 0.607000 44 61 0 0 0.013114 0 0 FANCB 2187 broad.mit.edu 37 X 14883218 14883218 + Missense_Mutation SNP C C A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chrX:14883218C>A ENST00000398334.1 - 3 682 c.415G>T c.(415-417)Ggc>Tgc p.G139C FANCB_ENST00000324138.3_Missense_Mutation_p.G139C NM_001018113.1 NP_001018123.1 Q8NB91 FANCB_HUMAN Fanconi anemia, complementation group B 139 DNA repair nucleoplasm NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 24 Hepatocellular(33;0.183) ATTAAAGGGCCATTAAGGACC 0.353000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 35 4 7.11191e-15 1.62297e-14 0.013726 1 0 AMZ2P1 201283 broad.mit.edu 37 17 62968690 62968690 + RNA SNP A A G rs138671696 by1000genomes TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr17:62968690A>G ENST00000430983.1 - 0 1554 NR_026903.1 AAAATTCCACAAGTCTCTTGG 0.373000 5 171 0 0 0.001168 0 0 KMT2D 8085 broad.mit.edu 37 12 49435296 49435296 + Missense_Mutation SNP T T C TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr12:49435296T>C ENST00000301067.7 - 31 6256 c.6257A>G c.(6256-6258)aAg>aGg p.K2086R NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D CTTGGTCTGCTTGTTGATCTG 0.667000 29 82 0 0 0.009535 0 0 PHF2 5253 broad.mit.edu 37 9 96407930 96407930 + Missense_Mutation SNP C C A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr9:96407930C>A ENST00000359246.4 + 4 686 c.319C>A c.(319-321)Cgt>Agt p.R107S PHF2_ENST00000375376.4_Intron NM_005392.3 NP_005383.3 O75151 PHF2_HUMAN PHD finger protein 2 107 liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;9.11e-28) CGTGGTGGCCCGTGTGCCAGG 0.652000 4 100 0.000602214 0.00133993 0.014758 1 0 FNDC5 252995 broad.mit.edu 37 1 33333430 33333430 + Missense_Mutation SNP C C G TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr1:33333430C>G ENST00000373471.3 - 4 489 c.198G>C c.(196-198)atG>atC p.M66I NM_001171940.1|NM_153756.2 NP_001165411.1|NP_715637.1 Q8NAU1 FNDC5_HUMAN fibronectin type III domain containing 5 125 Fibronectin type-III. integral to membrane|peroxisomal membrane breast(1)|large_intestine(1)|lung(2)|ovary(1) 5 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) CCATCTCTTTCATGGTTACCT 0.562000 14 27 0 0 0.020292 0 0 NLRP7 199713 broad.mit.edu 37 19 55451265 55451265 + Missense_Mutation SNP C C T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr19:55451265C>T ENST00000588756.1 - 6 1408 c.922G>A c.(922-924)Gac>Aac p.D308N NLRP7_ENST00000590030.1_Missense_Mutation_p.D308N|NLRP7_ENST00000448121.2_Missense_Mutation_p.D308N|NLRP7_ENST00000592784.1_Missense_Mutation_p.D308N|NLRP7_ENST00000446217.1_Missense_Mutation_p.D336N|NLRP7_ENST00000340844.2_Missense_Mutation_p.D308N|NLRP7_ENST00000328092.5_Missense_Mutation_p.D308N Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 308 NACHT. ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) AGCTGGAGGTCCCTCAGTGCC 0.617000 29 22 0 0 0.006320 0 0 GBGT1 26301 broad.mit.edu 37 9 136029198 136029198 + Missense_Mutation SNP G G A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr9:136029198G>A ENST00000372043.3 - 7 1076 c.791C>T c.(790-792)cCa>cTa p.P264L GBGT1_ENST00000472281.1_5'UTR|GBGT1_ENST00000372040.3_Silent_p.A270A|RALGDS_ENST00000542690.1_Intron|GBGT1_ENST00000540636.1_Silent_p.A253A NM_021996.4 NP_068836.2 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05) CATATACCCTGGCCACCTGCC 0.597000 76 55 0 0 0.014410 0 0 MYH7 4625 broad.mit.edu 37 14 23891495 23891495 + Missense_Mutation SNP C C T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr14:23891495C>T ENST00000355349.3 - 25 3301 c.3139G>A c.(3139-3141)Gac>Aac p.D1047N NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1047 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CGCTCCAGGTCCATGCGCACC 0.577000 15 30 0 0 0.004007 0 0 LYN 4067 broad.mit.edu 37 8 56863053 56863053 + Missense_Mutation SNP C C A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr8:56863053C>A ENST00000520220.2 + 5 531 c.257C>A c.(256-258)aCa>aAa p.T86K LYN_ENST00000519728.1_Missense_Mutation_p.T107K NM_001111097.2 NP_001104567.1 P07948 LYN_HUMAN v-yes-1 Yamaguchi sarcoma viral related oncogene homolog 107 SH3. erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 22 all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772) Epithelial(17;0.000834)|all cancers(17;0.00598) TCCCTTTTAACAAAAAAAGAA 0.378000 89 107 5.29478e-28 1.22718e-27 0.014410 1 0 ALPK2 115701 broad.mit.edu 37 18 56204943 56204943 + Missense_Mutation SNP G G A rs139158112 byFrequency TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr18:56204943G>A ENST00000361673.3 - 5 2689 c.2476C>T c.(2476-2478)Cca>Tca p.P826S RP11-1151B14.4_ENST00000591360.1_RNA NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 826 ATP binding|protein serine/threonine kinase activity p.P192T(1)|p.P826T(1) NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 TTATCAACTGGTCTCCCAACA 0.418000 8 24 0 0 0.006122 0 0 C1orf173 127254 broad.mit.edu 37 1 75038347 75038347 + Missense_Mutation SNP C C T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr1:75038347C>T ENST00000326665.5 - 14 3265 c.3047G>A c.(3046-3048)gGa>gAa p.G1016E C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1016 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 TGCAAGGCTTCCTTCCTCAGG 0.507000 39 43 0 0 0.021022 0 0 PMP2 5375 broad.mit.edu 37 8 82356831 82356831 + Missense_Mutation SNP G G A rs149339630 TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr8:82356831G>A ENST00000519260.1 - 2 131 c.79C>T c.(79-81)Cgt>Tgt p.R27C RP11-157I4.4_ENST00000524085.2_RNA|PMP2_ENST00000256103.2_Silent_p.I84I P02689 MYP2_HUMAN peripheral myelin protein 2 0 cytoplasm cholesterol binding|fatty acid binding|transporter activity endometrium(1)|kidney(1)|large_intestine(1)|lung(3) 6 Epithelial(68;0.186) GCAGGGTTACGATGCTCTGCA 0.403000 34 20 0 0 0.019004 0 0 TMEM108 66000 broad.mit.edu 37 3 133098779 133098779 + Missense_Mutation SNP C C T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr3:133098779C>T ENST00000515826.1 + 3 347 c.224C>T c.(223-225)tCa>tTa p.S75L TMEM108_ENST00000321871.6_Missense_Mutation_p.S75L|TMEM108_ENST00000393130.3_Missense_Mutation_p.S75L|TMEM108_ENST00000508711.1_Intron Q6UXF1 TM108_HUMAN transmembrane protein 108 75 Pro-rich. integral to membrane endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 GGACCCCCCTCACAGGCTGCA 0.632000 46 44 0 0 0.014410 0 0 CLCN1 1180 broad.mit.edu 37 7 143028644 143028644 + Splice_Site SNP G G A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr7:143028644G>A ENST00000343257.2 + 10 1152 c.1064_splice c.e10-1 p.G355_splice NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 355 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) ACACCCTCAGGATTTGCTGTG 0.473000 30 35 0 0 0.008361 0 0 ROBO3 64221 broad.mit.edu 37 11 124745065 124745065 + Missense_Mutation SNP C C T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr11:124745065C>T ENST00000397801.1 + 14 2324 c.2132C>T c.(2131-2133)cCt>cTt p.P711L ROBO3_ENST00000538940.1_Missense_Mutation_p.P689L NM_022370.3 NP_071765.2 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 (Drosophila) 711 Fibronectin type-III 2. axon midline choice point recognition integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 35 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) GTAGCAGGCCCTGAGGGAGGA 0.592000 18 3 0 0 0.006122 0 0 TMPRSS11E 28983 broad.mit.edu 37 4 69344581 69344581 + Missense_Mutation SNP C C T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr4:69344581C>T ENST00000305363.4 + 9 1046 c.982C>T c.(982-984)Cat>Tat p.H328Y NM_014058.3 NP_054777.2 Q9UL52 TM11E_HUMAN transmembrane protease, serine 11E 328 Peptidase S1. proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity endometrium(1)|lung(19)|pancreas(1)|skin(3) 24 CAGTCAAAATCATCTTCGACA 0.343000 60 73 0 0 0.014410 0 0 UGT3A1 133688 broad.mit.edu 37 5 35954319 35954319 + Missense_Mutation SNP C C A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr5:35954319C>A ENST00000274278.3 - 7 1914 c.1557G>T c.(1555-1557)aaG>aaT p.K519N NM_152404.3 NP_689617.3 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 519 integral to membrane glucuronosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TCTTCTTCACCTTCCTGGCCC 0.597000 16 3 5.01169e-05 0.000112071 0.004990 1 0 UBQLN1 29979 broad.mit.edu 37 9 86281333 86281333 + Missense_Mutation SNP G G A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr9:86281333G>A ENST00000376395.4 - 8 1787 c.1264C>T c.(1264-1266)Ccc>Tcc p.P422S UBQLN1_ENST00000257468.7_Intron NM_013438.4|NM_053067.2 NP_038466.2|NP_444295.1 Q9UMX0 UBQL1_HUMAN ubiquilin 1 422 apoptosis|regulation of protein ubiquitination|response to hypoxia endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex kinase binding breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1) 27 GCAAATAGGGGATTATTCAGC 0.388000 24 37 0 0 0.005443 0 0 ADCY10 55811 broad.mit.edu 37 1 167874300 167874300 + Missense_Mutation SNP C C T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr1:167874300C>T ENST00000367851.4 - 2 263 c.79G>A c.(79-81)Gga>Aga p.G27R ADCY10_ENST00000476818.2_Missense_Mutation_p.G27R|ADCY10_ENST00000545172.1_Intron|ADCY10_ENST00000367848.1_5'UTR NM_018417.4 NP_060887.2 Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 27 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 GAGAAATGTCCATAGACAATG 0.413000 38 54 0 0 0.019004 0 0 DEPDC1 55635 broad.mit.edu 37 1 68943575 68943575 + Silent SNP A A G TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr1:68943575A>G ENST00000456315.2 - 11 2307 c.2193T>C c.(2191-2193)gaT>gaC p.D731D DEPDC1_ENST00000370966.5_Silent_p.D447D NM_001114120.1 NP_001107592.1 Q5TB30 DEP1A_HUMAN DEP domain containing 1 731 intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex GTPase activator activity|protein binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(397;7.21e-36) CTTTTTGCTCATCAAACTCCT 0.338000 5 208 0 0 0.001168 0 0 OR4A5 81318 broad.mit.edu 37 11 51411646 51411646 + Silent SNP G G A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr11:51411646G>A ENST00000319760.6 - 1 802 c.750C>T c.(748-750)ccC>ccT p.P250P NM_001005272.3 NP_001005272.3 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, member 5 250 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P250Q(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 49 all_lung(304;0.236) TGAAAATACAGGGTACAAAAA 0.393000 18 30 0 0 0.006122 0 0 SCN5A 6331 broad.mit.edu 37 3 38592632 38592632 + Missense_Mutation SNP C C T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr3:38592632C>T ENST00000413689.1 - 28 5424 c.5231G>A c.(5230-5232)aGc>aAc p.S1744N SCN5A_ENST00000443581.1_Missense_Mutation_p.S1743N|SCN5A_ENST00000425664.1_Missense_Mutation_p.S1726N|SCN5A_ENST00000423572.2_Missense_Mutation_p.S1743N|SCN5A_ENST00000414099.2_Missense_Mutation_p.S1726N|SCN5A_ENST00000455624.2_Missense_Mutation_p.S1711N|SCN5A_ENST00000451551.2_Missense_Mutation_p.S1690N|SCN5A_ENST00000333535.4_Missense_Mutation_p.S1744N|SCN5A_ENST00000450102.2_Missense_Mutation_p.S1690N|SCN5A_ENST00000449557.2_Missense_Mutation_p.S1690N NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 1744 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) CACGGCTGGGCTCCCGCAGTC 0.607000 38 32 0 0 0.021022 0 0 GBF1 8729 broad.mit.edu 37 10 104120095 104120095 + Silent SNP C C T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr10:104120095C>T ENST00000369983.3 + 12 1592 c.1332C>T c.(1330-1332)gcC>gcT p.A444A GBF1_ENST00000476019.1_Intron NM_001199378.1|NM_001199379.1|NM_004193.2 NP_001186307.1|NP_001186308.1|NP_004184.1 Q92538 GBF1_HUMAN golgi brefeldin A resistant guanine nucleotide exchange factor 1 444 COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) CCCCTGTAGCCCAGTGCCAGA 0.527000 70 13 0 0 0.014410 0 0 ADAMDEC1 27299 broad.mit.edu 37 8 24253266 24253266 + Missense_Mutation SNP G G A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr8:24253266G>A ENST00000538205.1 + 6 707 c.160G>A c.(160-162)Gaa>Aaa p.E54K RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000256412.4_Missense_Mutation_p.E133K|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.E54K NM_001145271.1 NP_001138743.1 O15204 ADEC1_HUMAN ADAM-like, decysin 1 133 integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis extracellular region|integral to membrane integrin binding|metalloendopeptidase activity|zinc ion binding p.E133K(1) NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1) 9 Prostate(55;0.0181) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168) CATCCTAAATGAAAAGAATTC 0.363000 16 8 0 0 0.008871 0 0 TFPI2 7980 broad.mit.edu 37 7 93516204 93516204 + Silent SNP C C T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr7:93516204C>T ENST00000222543.5 - 5 948 c.636G>A c.(634-636)ttG>ttA p.L212L GNGT1_ENST00000455502.1_Intron|TFPI2_ENST00000545378.1_Silent_p.L101L NM_006528.3 NP_006519.1 P48307 TFPI2_HUMAN tissue factor pathway inhibitor 2 212 blood coagulation proteinaceous extracellular matrix extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218) STAD - Stomach adenocarcinoma(171;0.000967) TTTTCTTTTTCAAAGCTAAAA 0.333000 61 78 0 0 0.014410 0 0 CSMD3 114788 broad.mit.edu 37 8 113516040 113516040 + Missense_Mutation SNP C C T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr8:113516040C>T ENST00000297405.5 - 30 5306 c.5062G>A c.(5062-5064)Gga>Aga p.G1688R CSMD3_ENST00000352409.3_Missense_Mutation_p.G1688R|CSMD3_ENST00000455883.2_Missense_Mutation_p.G1584R|CSMD3_ENST00000343508.3_Missense_Mutation_p.G1648R NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1688 CUB 9. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 AGATGAAATCCAGTGTAACTA 0.333000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 19 31 0 0 0.008871 0 0 COL11A2 1302 broad.mit.edu 37 6 33141174 33141174 + Missense_Mutation SNP G G A rs150065075 TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr6:33141174G>A ENST00000341947.2 - 37 2914 c.2687C>T c.(2686-2688)cCc>cTc p.P896L COL11A2_ENST00000374708.4_Missense_Mutation_p.P810L|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000395197.1_Missense_Mutation_p.P836L|COL11A2_ENST00000357486.1_Missense_Mutation_p.P875L|COL11A2_ENST00000374712.1_Missense_Mutation_p.P815L|COL11A2_ENST00000361917.1_Missense_Mutation_p.P789L|COL11A2_ENST00000374714.1_Missense_Mutation_p.P870L|COL11A2_ENST00000374713.1_Missense_Mutation_p.P849L NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 896 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 CTTCCCAGGGGGGCCCTGGAA 0.597000 33 46 0 0 0.017118 0 0 TTN 7273 broad.mit.edu 37 2 179611213 179611213 + Missense_Mutation SNP G G A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr2:179611213G>A ENST00000360870.5 - 46 16136 c.15914C>T c.(15913-15915)cCt>cTt p.P5305L TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 8823 Ig-like 33. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTGAGGAGAAGGTGTTCTTGA 0.413000 24 30 0 0 0.018920 0 0 GBP2 2634 broad.mit.edu 37 1 89586829 89586829 + Silent SNP C C T rs147250118 byFrequency TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr1:89586829C>T ENST00000370466.3 - 3 583 c.315G>A c.(313-315)gaG>gaA p.E105E NM_004120.3 NP_004111.2 P32456 GBP2_HUMAN guanylate binding protein 2, interferon-inducible 105 interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway plasma membrane GTP binding|GTPase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1) 20 Lung NSC(277;0.0908) all cancers(265;0.0151)|Epithelial(280;0.0284) TTTTTACCTTCTCTATATCTC 0.413000 24 34 0 0 0.014323 0 0 ANAPC4 29945 broad.mit.edu 37 4 25379058 25379058 + Frame_Shift_Del DEL T T - TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr4:25379058delT ENST00000315368.3 + 2 151 c.9delT c.(7-9)cgfs p.R3fs ANAPC4_ENST00000510092.1_Frame_Shift_Del_p.R3fs NM_013367.2 NP_037499.2 Q9UJX5 APC4_HUMAN anaphase promoting complex subunit 4 3 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding|ubiquitin-protein ligase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2) 27 Breast(46;0.0503) CCATGTTGCGTTTTCCGACCT 0.632 16 36 --- --- --- --- TRBV29-1 28558 broad.mit.edu 37 7 142448200 142448207 + RNA DEL GGTGGAAA GGTGGAAA - rs149832120 by1000genomes TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr7:142448200_142448207delGGTGGAAA ENST00000422143.2 + 0 101 GTTAACACTGGGTGGAAAGGTGGAAAGA 0.457 6 4 --- --- --- --- SF1 7536 broad.mit.edu 37 11 64533440 64533448 + In_Frame_Del DEL AGGCGGTGG AGGCGGTGG - TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr11:64533440_64533448delAGGCGGTGG ENST00000377390.3 - 13 2099_2107 c.1762_1770delCCACCGCCT c.(1762-1770)del p.PPP588del SF1_ENST00000422298.2_Intron|SF1_ENST00000227503.9_Intron|SF1_ENST00000334944.5_In_Frame_Del_p.PPP588del|SF1_ENST00000377394.3_Intron|SF1_ENST00000377387.1_Intron|SF1_ENST00000433274.2_In_Frame_Del_p.PPP562del NM_004630.3 NP_004621.2 Q15637 SF01_HUMAN splicing factor 1 588 Pro-rich. nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent ribosome|spliceosomal complex protein binding|RNA binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2) 31 CGGCGGAACCAGGCGGTGGAGGCGGCGGA 0.703 7 0 --- --- --- --- MALAT1 378938 broad.mit.edu 37 11 65268180 65268180 + RNA DEL A A - TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr11:65268180delA ENST00000534336.1 + 0 2948 NR_002819.2 TTGTGCGTAGAGGATCCTAGA 0.532 44 16 --- --- --- --- MYO1A 4640 broad.mit.edu 37 12 57422573 57422573 + Frame_Shift_Del DEL T T - TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr12:57422573delT ENST00000442789.2 - 29 3385 c.3098delA c.(3097-3099)agfs p.K1033fs MYO1A_ENST00000300119.3_Frame_Shift_Del_p.K1033fs|MYO1A_ENST00000544473.1_Frame_Shift_Del_p.K871fs|TAC3_ENST00000415231.1_5'UTR NM_001256041.1 NP_001242970.1 Q9UBC5 MYO1A_HUMAN myosin IA 1033 sensory perception of sound|vesicle localization brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex actin binding|ATP binding|calmodulin binding|motor activity p.?(1) breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3) 50 ATGACTCCCCTTTTTTTTGTA 0.557 8 360 --- --- --- --- GABRB3 2562 broad.mit.edu 37 15 26866484 26866485 + Frame_Shift_Ins INS - - TC TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr15:26866484_26866485insTC ENST00000541819.2 - 5 707_708 c.605_606insGA c.(604-606)gggfs p.G202fs GABRB3_ENST00000311550.5_Frame_Shift_Ins_p.G146fs|GABRB3_ENST00000299267.4_Frame_Shift_Ins_p.G146fs|GABRB3_ENST00000545868.1_Frame_Shift_Ins_p.G61fs|GABRB3_ENST00000400188.3_Frame_Shift_Ins_p.G75fs P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 3 146 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 68 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) GCACTGTCCCATCAGGGTGAAG 0.460 46 89 --- --- --- --- DIS3L 115752 broad.mit.edu 37 15 66610870 66610870 + Frame_Shift_Del DEL A A - TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr15:66610870delA ENST00000319194.5 + 8 1090 c.829delA c.(829-831)aafs p.K277fs RP11-352G18.2_ENST00000565993.1_RNA|DIS3L_ENST00000441424.2_Intron|DIS3L_ENST00000319212.4_Frame_Shift_Del_p.K360fs NM_133375.3 NP_588616.1 Q8TF46 DI3L1_HUMAN DIS3 mitotic control homolog (S. cerevisiae)-like 360 rRNA catabolic process cytoplasm|exosome (RNase complex) exonuclease activity|protein binding|ribonuclease activity|RNA binding breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 ATCTCAGGGCAAAAATGCTCA 0.453 60 72 --- --- --- --- PRR12 57479 broad.mit.edu 37 19 50099739 50099739 + Frame_Shift_Del DEL C C - TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr19:50099739delC ENST00000418929.2 + 4 2159 c.2147delC c.(2146-2148)ggfs p.A717fs NM_020719.1 NP_065770.1 Q9ULL5 PRR12_HUMAN proline rich 12 440 Pro-rich. DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2) 11 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) GGTGCCACTGCGGCACTGGAG 0.652 11 8 --- --- --- --- EP300-AS1 101927279 broad.mit.edu 37 22 41586193 41586193 + RNA DEL A A - rs150908685 TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr22:41586193delA ENST00000420537.1 - 0 223 CTTCAAAGGCaaaaaaaaaaa 0.408 4 7 --- --- --- ---